Identification of novel mutations in Mexican patients with Aarskog–Scott syndrome

Aarskog–Scott syndrome (AAS), also known as faciogenital dysplasia (FGD, OMIM # 305400), is an X-linked disorder of recessive inheritance, characterized by short stature and facial, skeletal, and urogenital abnormalities. AAS is caused by mutations in the FGD1 gene (Xp11.22), with over 56 different...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Genet Genomic Med
Egile Nagusiak: Pérez-Coria, Mariana, Lugo-Trampe, José J, Zamudio-Osuna, Michell, Rodríguez-Sánchez, Iram P, Lugo-Trampe, Angel, de la Fuente-Cortez, Beatriz, Campos-Acevedo, Luis D, Martínez-de-Villarreal, Laura E
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BlackWell Publishing Ltd 2015
Gaiak:
Original Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4444161/
https://ncbi.nlm.nih.gov/pubmed/26029706
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.132
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak