TCTN3 mutations cause Mohr-Majewski syndrome.

doi:10.1016/j.ajhg.2012.06.017

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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 ex...

Topics

Adaptor Proteins, Signal Transducing
Adolescent
Apoptosis Regulatory Proteins
Base Sequence
Cerebellum
Child
Cleft Palate
Exome
Fetus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Foot Deformities, Congenital

Hand Deformities, Congenital

Hedgehog Proteins

Homozygote

Humans

Intracellular Signaling Peptides and Proteins

Membrane Proteins

Molecular Sequence Data

Mutation

Source

Open in PubMed Open full text

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 30 Aug 2026. Prepared record publication-22883145-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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