Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

doi:10.1136/jmedgenet-2016-104436

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Article

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

Journal of medical genetics - 1 Jun 2017

Bruel Ange-Line, Franco Brunella, Duffourd Yannis, Thevenon Julien, Jego Laurence, Lopez Estelle, Deleuze Jean-François, Doummar Diane, Giles Rachel H, Johnson Colin A, Huynen Martijn A, Chevrier Véronique, Burglen Lydie, Morleo Manuela, Desguerres Isabelle, Pierquin Geneviève, Doray Bérénice, Gilbert-Dussardier Brigitte, Reversade Bruno, Steichen-Gersdorf Elisabeth, Baumann Clarisse, Panigrahi Inusha, Fargeot-Espaliat Anne, Dieux Anne, David Albert, Goldenberg Alice, Bongers Ernie, Gaillard Dominique, Argente Jesús, Aral Bernard, Gigot Nadège, St-Onge Judith, Birnbaum Daniel, Phadke Shubha R, Cormier-Daire Valérie, Eguether Thibaut, Pazour Gregory J, Herranz-Pérez Vicente, Goldstein Jaclyn S, Pasquier Laurent, Loget Philippe, Saunier Sophie, Mégarbané André, Rosnet Olivier, Leroux Michel R, Wallingford John B, Blacque Oliver E, Nachury Maxence V, Attie-Bitach Tania, Rivière Jean-Baptiste, Faivre Laurence, Thauvin-Robinet Christel

Abstract excerpt

Oral-facial-digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list of OFDS subtypes. The m...

Topics

Abnormalities, Multiple
Ciliary Motility Disorders
Encephalocele
Face
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Heterozygote

Humans

Male

Mutation

Orofaciodigital Syndromes

Polycystic Kidney Diseases

Proteins

Retinitis Pigmentosa

Source

Open in PubMed Open full text

Identifiers

PMID: 28289185
DOI: 10.1136/jmedgenet-2016-104436
PMCID: PMC5557276

Genes

IFT57
INTU

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-28289185-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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