A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A

A consanguineous Bedouin Israeli kindred presented with a novel autosomal recessive intellectual disability syndrome of congenital microcephaly, low anterior hairline, bitemporal narrowing, low-set protruding ears, strabismus and tented thick eyebrows with sparse hair in their medial segment. Brain...

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Dades bibliogràfiques
Publicat a:Eur J Hum Genet
Autors principals: Fine, Dina, Flusser, Hagit, Markus, Barak, Shorer, Zamir, Gradstein, Libe, Khateeb, Shareef, Langer, Yshia, Narkis, Ginat, Birk, Ruth, Galil, Aharon, Shelef, Ilan, Birk, Ohad S
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2015
Matèries:
Short Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795192/
https://ncbi.nlm.nih.gov/pubmed/25388005
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.241
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