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Article

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

Human mutation - 1 Oct 2008

Prattichizzo Clelia, Macca Marina, Novelli Valeria, Giorgio Giovanna, Barra Adriano, Franco Brunella

Abstract excerpt

Oral-facial-digital type I (OFDI) syndrome is a male-lethal X-linked dominant developmental disorder belonging to the heterogeneous group of oral-facial-digital syndromes (OFDS). OFDI is characterized by malformations of the face, oral cavity, and digits. Central nervous system (CNS) abnormalities and cystic kidney disease can also be part of this condition. This rare genetic disorder is due to mutations in the...

Topics

Adolescent
Amino Acid Sequence
Child
Cohort Studies
DNA Mutational Analysis
Female
Genotype
Humans
Male
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Orofaciodigital Syndromes

Phenotype

Proteins

Sequence Alignment

Source

Identifiers

PMID: 18546297
DOI: 10.1002/humu.20792

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-18546297-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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