Referências

1. Ahmed S.F., Khwaja O., Hughes I.A., The role of a clinical score in the assessment of ambiguous genitalia, BJU Int., 85, 1, pp. 120-124, (2000)
2. Ahn Y.H., Park E.J., Kang H.G., Kim S.H., Cho H.Y., Shin J.I., Et al., Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy, Pediatr Nephrol., 32, 1, pp. 81-89, (2017)
3. Ambu R., Vinci L., Gerosa C., Fanni D., Obinu E., Faa A., Et al., WT1 expression in the human fetus during development, Eur J Histochem., 59, 2, (2015)
4. Auton A., Auton A., Brooks L.D., Durbin R.M., Garrison E.P., Kang H.M., Et al., A global reference for human genetic variation, Nature., 526, 7571, pp. 68-74, (2015)
5. Barbaux S., Niaudet P., Gubler M.C., Grunfeld J.P., Jaubert F., Kuttenn F., Et al., Donor splice-site mutations in WT1 are responsible for Frasier syndrome, Nat Genet., 17, 4, pp. 467-470, (1997)
6. Breslow N.E., Collins A.J., Ritchey M.L., Grigoriev Y.A., Peterson S.M., Green D.M., End stage renal disease in patients with Wilms tumor: Results from the National Wilms Tumor Study Group and the United States Renal Data System, J Urol., 174, 5, pp. 1972-1975, (2005)
7. Brownstein C.A., Beggs A.H., Homer N., Merriman B., Yu T.W., Flannery K.C., Et al., An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge, Genome Biol., 15, 3, (2014)
8. Call K.M., Glaser T., Ito C.Y., Buckler A.J., Pelletier J., Haber D.A., Et al., Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus, Cell., 60, 3, pp. 509-520, (1990)
9. Cen C., Chen M., Zhou J., Zhang L., Duo S., Jiang L., Et al., Inactivation of Wt1 causes pre-granulosa cell to steroidogenic cell transformation and defect of ovary development, Biol Reprod., 103, 1, pp. 60-69, (2020)
10. Chernin G., Vega-Warner V., Schoeb D.S., Heeringa S.F., Ovunc B., Saisawat P., Et al., Genotype/ phenotype correlation in nephrotic syndrome caused by WT1 mutations, Clin J Am Soc Nephrol., 5, 9, pp. 1655-1662, (2010)
11. Da Silva T.E., Nishi M.Y., Costa E.M., Martin R.M., Carvalho F.M., Mendonca B.B., Et al., A novel WT1 heterozygous nonsense mutation (p. K248X) causing a mild and slightly progressive nephropathy in a 46, XY patient with Denys-Drash syndrome, Pediatr Nephrol., 26, 8, pp. 1311-1315, (2011)
12. Da Silva T.E., Gomes N.L., Lerario A.M., Keegan C.E., Nishi M.Y., Carvalho F.M., Et al., Genetic evidence of the association of DEAH-Box helicase 37 defects with 46, XY gonadal dysgenesis spectrum, J Clin Endocrinol Metab., 104, 12, pp. 5923-5934, (2019)
13. Denys P., Malvaux P., Van Den Berghe H., Tanghe W., Proesmans W., [Association of an anatomo-pathological syndrome of Male pseudohermaphroditism, Wilms' tumor, parenchymatous nephropathy and XX/XY mosaicism], Arch Fr Pediatr., 24, 7, pp. 729-739, (1967)
14. Drash A., Sherman F., Hartmann W.H., Blizzard R.M., A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease, J Pediatr., 76, 4, pp. 585-593, (1970)
15. Eozenou C., Elaidy A., McElreavey K., Mutation in WT1 (Wilms' Tumor Suppressor 1) Associated with 46, XX Testicular DSD, Washington, DC: International Meeting of Pediatric Endocrinology, (2017)
16. Eozenou C., Gonen N., Touzon M.S., Jorgensen A., Yatsenko S.A., Fusee L., Et al., Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene, Proc Natl Acad Sci USA., 117, 24, pp. 13680-13688, (2020)
17. Ezaki J., Hashimoto K., Asano T., Kanda S., Akioka Y., Hattori M., Et al., Gonadal tumor in Frasier syndrome: A review and classification, Cancer Prev Res (Phila)., 8, 4, pp. 271-276, (2015)
18. Ferrari M.T.M., Batista R.L., Mendonca B.B., Domenice S., WT1 pathogenic variants are associated with a broad spectrum of differences in sex development phenotypes and heterogeneous progression of renal disease, Figshare
19. Franca M.M., Funari M.F.A., Nishi M.Y., Narcizo A.M., Domenice S., Costa E.M.F., Et al., Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing, Clin Genet., 93, pp. 408-411, (2018)
20. Frasier S.D., Bashore R.A., Mosier H.D., Gonadoblastoma associated with pure gonadal dysgenesis in monozygous twins, J Pediatr., 64, pp. 740-745, (1964)
21. Funari M.F.A., De Barros J.S., Santana L.S., Lerario A.M., Freire B.L., Homma T.K., Et al., Evaluation of SHOX defects in the era of next-generation sequencing, Clin Genet., 96, 3, pp. 261-265, (2019)
22. Gao F., Zhang J., Wang X., Yang J., Chen D., Huff V., Et al., Wt1 functions in ovarian follicle development by regulating granulosa cell differentiation, Hum Mol Genet., 23, 2, pp. 333-341, (2014)
23. Gessler M., Poustka A., Cavenee W., Neve R.L., Orkin S.H., Bruns G.A., Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping, Nature., 343, 6260, pp. 774-778, (1990)
24. Gomes N.L., De Paula L.C.P., Silva J.M., Silva T.E., Lerario A.M., Nishi M.Y., Et al., A 46, XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant, Clin Genet., 95, 1, pp. 172-176, (2019)
25. Guaragna M.S., Lutaif A.C., Bittencourt V.B., Piveta C.S., Soardi F.C., Castro L.C., Et al., Frasier syndrome: Four new cases with unusual presentations, Arq Bras Endocrinol Metabol., 56, 8, pp. 525-532, (2012)
26. Guaragna M.S., Ribeiro De Andrade J.G., De Freitas Carli B., Belangero V.M., Maciel-Guerra A.T., Guerra-Junior G., Et al., WT1 haploinsufficiency supports milder renal manifestation in two patients with Denys-Drash syndrome, Sex Dev., 11, 1, pp. 34-39, (2017)
27. Haber D.A., Sohn R.L., Buckler A.J., Pelletier J., Call K.M., Housman D.E., Alternative splicing and genomic structure of the Wilms tumor gene WT1, Proc Natl Acad Sci USA., 88, 21, pp. 9618-9622, (1991)
28. Hersmus R., Van Der Zwan Y.G., Stoop H., Bernard P., Sreenivasan R., Oosterhuis J.W., Et al., A 46, XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation, PLoS One., 7, 7, (2012)
29. Hoefele J., Kemper M.J., Schoenermarck U., Mueller S., Klein H.G., Lemke A., Truncating Wilms tumor suppressor gene 1 mutation in an XX female with adult-onset focal segmental glomerulosclerosis and streak ovaries: A case report, Nephron., 135, 1, pp. 72-76, (2017)
30. Hohenstein P., Hastie N.D., The many facets of the Wilms' tumour gene, WT1, Hum Mol Genet, pp. R196-R201, (2006)
31. Hossain A., Saunders G.F., The human sex-determining gene SRY is a direct target of WT1, J Biol Chem., 276, 20, pp. 16817-16823, (2001)
32. Hughes I.A., Houk C., Ahmed S.F., Lee P.A., Consensus statement on management of intersex disorders, J Pediatr Urol., 2, 3, pp. 148-162, (2006)
33. Ismaili K., Verdure V., Vandenhoute K., Janssen F., Hall M., WT1 gene mutations in three girls with nephrotic syndrome, Eur J Pediatr., 167, 5, pp. 579-581, (2008)
34. Joki-Erkkila M.M., Karikoski R., Rantala I., Lenko H.-L., Visakorp T., Heinonen P., Gonadoblastoma and dysgerminoma associated with XY gonadal dysgenesis in an adolescent with chronic renal failure: A case of Frasier syndrome, J Pediatr Adolesc Gynecol., 15, pp. 145-149, (2002)
35. Killeen O.G., Kelehan P., Reardon W., Double vagina with sex reversal, congenital diaphragmatic hernia, pulmonary and cardiac malformations-another case of Meacham syndrome, Clin Dysmorphol., 11, 1, pp. 25-28, (2002)
36. Klamt B., Koziell A., Poulat F., Wieacker P., Scambler P., Berta P., Et al., Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms, Hum Mol Genet., 7, 4, pp. 709-714, (1998)
37. Koziell A., Grundy R., Frasier and Denys-Drash syndromes: Different disorders or part of a spectrum?, Arch Dis Child., 81, 4, pp. 365-369, (1999)
38. Lehnhardt A., Karnatz C., Ahlenstiel-Grunow T., Benz K., Benz M.R., Budde K., Et al., Clinical and molecular characterization of patients with heterozygous mutations in Wilms tumor suppressor gene 1, Clin J Am Soc Nephrol., 10, 5, pp. 825-831, (2015)
39. Lipska B.S., Ranchin B., Iatropoulos P., Gellermann J., Melk A., Ozaltin F., Et al., Genotype-phenotype associations in WT1 glomerulopathy, Kidney Int., 85, 5, pp. 1169-1178, (2014)
40. Maaswinkel-Mooij P.D., Stokvis-Brantsma W.H., Phenotypically normal girl with Male pseudohermaphroditism, hypoplastic left ventricle, lung aplasia, horseshoe kidney, and diaphragmatic hernia, Am J Med Genet., 42, 5, pp. 647-648, (1992)
41. Meacham L.R., Winn K.J., Culler F.L., Parks J.S., Double vagina, cardiac, pulmonary, and other genital malformations with 46, XY karyotype, Am J Med Genet., 41, 4, pp. 478-481, (1991)
42. Melo K.F., Martin R.M., Costa E.M., Carvalho F.M., Jorge A.A., Arnhold I.J., Et al., An unusual phenotype of Frasier syndrome due to IVS9+4C> T mutation in the WT1 gene: Predominantly Male ambiguous genitalia and absence of gonadal dysgenesis, J Clin Endocrinol Metab., 87, 6, pp. 2500-2505, (2002)
43. Miller S.A., Dykes D.D., Polesky H.F., A simple salting out procedure for extracting DNA from human nucleated cells, Nucleic Acids Res., 16, 3, (1988)
44. Naslavsky M.S., Yamamoto G.L., De Almeida T.F., Ezquina S.A.M., Sunaga D.Y., Pho N., Et al., Exomic variants of an elderly cohort of Brazilians in the ABraOM database, Hum Mutat., 38, 7, pp. 751-763, (2017)
45. Patek C.E., Little M.H., Fleming S., Miles C., Charlieu J.P., Clarke A.R., Et al., A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome, Proc Natl Acad Sci USA., 96, 6, pp. 2931-2936, (1999)
46. Pelletier J., Bruening W., Kashtan C.E., Mauer S.M., Manivel J.C., Striegel J.E., Et al., Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome, Cell., 67, 2, pp. 437-447, (1991)
47. Pritchard-Jones K., Fleming S., Davidson D., Bickmore W., Porteous D., Gosden C., Et al., The candidate Wilms' tumour gene is involved in genitourinary development, Nature., 346, 6280, pp. 194-197, (1990)
48. Richards S., Aziz N., Bale S., Bick D., Das S., Gastier-Foster J., Et al., Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet Med., 17, 5, pp. 405-424, (2015)
49. Rose E.A., Glaser T., Jones C., Smith C.L., Lewis W.H., Call K.M., Et al., Complete physical map of the WAGR region of 11p13 localizes a candidate Wilms' tumor gene, Cell., 60, 3, pp. 495-508, (1990)
50. Suri M., Kelehan P., O'Neill D., Vadeyar S., Grant J., Ahmed S.F., Et al., WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations, Am J Med Genet A., 143 A, 19, pp. 2312-2320, (2007)
51. Wagner K.D., Wagner N., Schedl A., The complex life of WT1, J Cell Sci., 116, pp. 1653-1658, (2003)
52. Wagner K.D., Wagner N., Schley G., Theres H., Scholz H., The Wilms' tumor suppressor Wt1 encodes a transcriptional activator of the class IV POU-domain factor Pou4f2 (Brn-3b), Gene., 305, 2, pp. 217-223, (2003)
53. Wang H., Li G., Zhang J., Gao F., Li W., Qin Y., Et al., Novel WT1 missense mutations in Han Chinese women with premature ovarian failure, Sci Rep., 5, (2015)