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Article

A familial chromosome 4p16.3 terminal microdeletion that does not cause Wolf-Hirschhorn (4p-) syndrome.

Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology - 7 Nov 2024

Osundiji Mayowa Azeez, Kahn Eva, Lanpher Brendan

Abstract excerpt

Chromosome 4p16.3 microdeletions are known to cause Wolf-Hirschhorn syndrome (WHS), which is characterized by a distinct craniofacial gestalt and multiple congenital malformations. The 4p16.3 region encompasses WHS critical region 1 (WHSCR1) and 2 (WHSCR2). The WHSCR contains several genes that have been implicated in the WHS phenotype including: WHS candidate 1 [WHSC1 (aka NSD2, OMIM 602952)], WHS candidate 2...

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PMID: 39509040
DOI: 10.1007/s10577-024-09757-9

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A familial chromosome 4p16.3 terminal microdeletion that does not cause Wolf-Hirschhorn (4p-) syndrome.PMID 39509040Read ↗

A Familial Chromosome 4p16.3 Terminal Microdeletion That Does Not Cause Wolf-Hirschhorn (4p-) syndromeSemantic proximity Read ↗

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