A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE

BACKGROUND: The X-linked condition “Aarskog-Scott syndrome (AAS)” causes a characteristic combination of short stature, facial, genital and skeletal anomalies. Studies elucidated a causative link between AAS and mutations in the FGD1 gene, which encodes a Rho/Rac guanine exchange factor. FGD1 is inv...

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Autores principales: Hamzeh, Abdul Rezzak, Saif, Fatima, Nair, Pratibha, Binjab, Asma Jassim, Mohamed, Madiha, Al-Ali, Mahmoud Taleb, Bastaki, Fatma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5248450/
https://www.ncbi.nlm.nih.gov/pubmed/28103835
http://dx.doi.org/10.1186/s12887-017-0781-4

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