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Article

TCTN3 mutations cause Mohr-Majewski syndrome.

American journal of human genetics - 10 Aug 2012

Thomas Sophie, Legendre Marine, Saunier Sophie, Bessières Bettina, Alby Caroline, Bonnière Maryse, Toutain Annick, Loeuillet Laurence, Szymanska Katarzyna, Jossic Frédérique, Gaillard Dominique, Yacoubi Mohamed Tahar, Mougou-Zerelli Soumaya, David Albert, Barthez Marie-Anne, Ville Yves, Bole-Feysot Christine, Nitschke Patrick, Lyonnet Stanislas, Munnich Arnold, Johnson Colin A, Encha-Razavi Férechté, Cormier-Daire Valérie, Thauvin-Robinet Christel, Vekemans Michel, Attié-Bitach Tania

Abstract excerpt

Orofaciodigital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of 13 OFDS subtypes. Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of OFD associated with...

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Source

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Identifiers

PMID: 22883145
DOI: 10.1016/j.ajhg.2012.06.017
PMCID: PMC3415538

Genes

TCTN3
SHH
GLI3
TCTN1
TCTN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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