Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.

doi:10.1038/jhg.2016.37

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Article

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.

Journal of human genetics - 1 Aug 2016

Moutton Sébastien, Fergelot Patricia, Naudion Sophie, Cordier Marie-Pierre, Solé Guilhem, Guerineau Elodie, Hubert Christophe, Rooryck Caroline, Vuillaume Marie-Laure, Houcinat Nada, Deforges Julie, Bouron Julie, Devès Sylvie, Le Merrer Martine, David Albert, Geneviève David, Giuliano Fabienne, Journel Hubert, Megarbane André, Faivre Laurence, Chassaing Nicolas, Francannet Christine, Sarrazin Elisabeth, Stattin Eva-Lena, Vigneron Jacqueline, Leclair Danielle, Abadie Caroline, Sarda Pierre, Baumann Clarisse, Delrue Marie-Ange, Arveiler Benoit, Lacombe Didier, Goizet Cyril, Coupry Isabelle

Abstract excerpt

Otopalatodigital spectrum disorders (OPDSD) constitute a group of dominant X-linked osteochondrodysplasias including four syndromes: otopalatodigital syndromes type 1 and type 2 (OPD1 and OPD2), frontometaphyseal dysplasia, and Melnick-Needles syndrome. These syndromes variably associate specific...

Topics

Alleles
Amino Acid Substitution
Craniofacial Abnormalities
Exons
Facies
Female
Filamins
Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hand Deformities, Congenital

Humans

Male

Mutation

Osteochondrodysplasias

Pedigree

Phenotype

Sequence Analysis, DNA

Source

Open in PubMed

Identifiers

PMID: 27193221
DOI: 10.1038/jhg.2016.37

Genes

FLNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-27193221-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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