Browsing Artigos e Materiais de Revistas Científicas - FM/Outros by Author "LACROIX, Amy J."

Browsing Artigos e Materiais de Revistas Científicas - FM/Outros by Author "LACROIX, Amy J."

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  • LACROIX, Amy J.; STABLEY, Deborah; SAHRAOUI, Rebecca; ADAM, Margaret P.; MEHAFFEY, Michele; KERNAN, Kelly; MYERS, Candace T.; FAGERSTROM, Carrie; ANADIOTIS, George; AKKARI, Yassmine M.; ROBBINS, Katherine M.; GRIPP, Karen W.; BARATELA, Wagner Ar; BOBER, Michael B.; DUKER, Angela L.; DOHERTY, Dan; DEMPSEY, Jennifer C.; MILLER, Daniel G.; KIRCHER, Martin; BAMSHAD, Michael J.; NICKERSON, Deborah A.; MEFFORD, Heather C.; SOL-CHURCH, Katia (CELL PRESS, CAMBRIDGE, USA, 2019)
    Baratela-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by short stature, facial dysmorphisms, developmental delay, and skeletal dysplasia caused by pathogenic variants in XYLT1. We report ...

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