A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins

Title
A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins
Authors
Keywords
de novo, mutation, X-linked, PAK3, Intellectual disability, Macrocephaly
Journal
European Journal of Medical Genetics
Volume 60, Issue 4, Pages 212-216
Publisher
Elsevier BV
Online
2017-01-24
DOI
10.1016/j.ejmg.2017.01.004

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