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Article

Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome.

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

Dikoglu Esra, Simsek-Kiper Pelin Ozlem, Utine Gulen Eda, Campos-Xavier Belinda, Boduroglu Koray, Bonafé Luisa, Superti-Furga Andrea, Unger Sheila

Abstract excerpt

Cousin syndrome, also called pelviscapular dysplasia (OMIM 260660), is characterized by short stature, craniofacial dysmorphism, and multiple skeletal anomalies. Following its description in two sibs in 1982, no new cases have been observed until the observation of two unrelated cases in 2008 who...

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Source

Identifiers

PMID: 24039145
DOI: 10.1002/ajmg.a.36173

Genes

TBX15

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24039145-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome.PMID 24039145Read ↗

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