Biallelic SEMA3A defects cause a novel type of syndromic short stature.

Abstract

Chromosomal microarray testing is commonly used to identify disease causing de novo copy number variants in patients with developmental delay and multiple congenital anomalies. In such a patient we now observed an 150 kb deletion on chromosome 7q21.11 affecting the first exon of the axon guidance molecule gene SEMA3A (sema domain, immunoglobulin domain (Ig… (More)
DOI: 10.1002/ajmg.a.36250

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