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Article

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

American journal of medical genetics. Part A - 1 Nov 2013

Hofmann Kristin, Zweier Markus, Sticht Heinrich, Zweier Christiane, Wittmann Wolfgang, Hoyer Juliane, Uebe Steffen, van Haeringen Arie, Thiel Christian T, Ekici Arif B, Reis André, Rauch Anita

Abstract excerpt

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), short basic domain, secreted, (semaphorin) 3A). This...

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Identifiers

PMID: 24124006
DOI: 10.1002/ajmg.a.36250

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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