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Article

Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification.

American journal of medical genetics. Part A - 1 Dec 2003

Nowaczyk Malgorzata J M, Zeesman Susan, Whelan Donald T, Wright Victoria, Feather Sally A

Abstract excerpt

We report on further clinical findings in the one single family in the literature classified as oral-facial-digital (OFD) type VII in order to demonstrate that the diagnosis in this kindred should, in fact, be OFD type I. The mother and the daughter described in the original report have since developed polycystic kidney disease. In addition, the daughter recently had a daughter of her own with central nervous...

Topics

Abnormalities, Multiple
Adult
Chromosome Mapping
Chromosomes, Human, X
Female
Genotype
Humans
Magnetic Resonance Imaging
Microsatellite Repeats
Orofaciodigital Syndromes
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polycystic Kidney Diseases

Source

Identifiers

PMID: 14598343
DOI: 10.1002/ajmg.a.20215

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-14598343-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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