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Weaver syndrome and defective cortical development: A rare association

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Bibliographic Details
Published in:	American journal of medical genetics. Part A 2013-01, Vol.161A (1), p.225-227
Main Authors:	Al-Salem, Ahmed, Alshammari, Muneera J., Hassan, Hamdy, Alazami, Anas M., Alkuraya, Fowzan S.
Format:	Article
Language:	English
Subjects:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Congenital Hypothyroidism - diagnosis Congenital Hypothyroidism - genetics Craniofacial Abnormalities - diagnosis Craniofacial Abnormalities - genetics de novo Enhancer of Zeste Homolog 2 Protein Exons EZH2 Hand Deformities, Congenital - diagnosis Hand Deformities, Congenital - genetics Humans Infant Male Mutation pachygyria Polycomb Repressive Complex 2 - genetics polymicrogyria weaver syndrome
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