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Article

A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation.

American journal of medical genetics. Part A - 1 Mar 2016

Yigit Gökhan, Wieczorek Dagmar, Bögershausen Nina, Beleggia Filippo, Möller-Hartmann Claudia, Altmüller Janine, Thiele Holger, Nürnberg Peter, Wollnik Bernd

Abstract excerpt

Using whole-exome sequencing, we identified a homozygous acceptor splice-site mutation in intron 6 of the KATNB1 gene in a patient from a consanguineous Turkish family who presented with congenital microcephaly, lissencephaly, short stature, polysyndactyly, and dental abnormalities. cDNA analysis revealed complete loss of the natural acceptor splice-site resulting either in the usage of an alternative, exonic...

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PMID: 26640080
DOI: 10.1002/ajmg.a.37484

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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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