FG syndrome, an X-linked multiple congenital anomaly syndrome: The clinical phenotype and an algorithm for diagnostic testing

FG syndrome is a rare X-linked multiple congenital anomaly-cognitive impairment disorder caused by the p.R961W mutation in the MED12 gene. We identified all known patients with this mutation to delineate their clinical phenotype and devise a clinical algorithm to facilitate molecular diagnosis. We a...

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Detalhes bibliográficos
Main Authors: Clark, Robin Dawn, Graham, John M., Friez, Michael J., Hoo, Joe J., Jones, Kenneth Lyons, McKeown, Carole, Moeschler, John B., Raymond, F. Lucy, Rogers, R. Curtis, Schwartz, Charles E., Battaglia, Agatino, Lyons, Michael J., Stevenson, Roger E.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4113033/
https://ncbi.nlm.nih.gov/pubmed/19938245
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/GIM.0b013e3181bd3d90
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