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Article

The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3

1 Jul 1997

Abstract excerpt

Key features of the oral-facial-digital syndrome type 1 (OFD1) include malformations of the face, oral cavity and digits. In addition, the clinical phenotype often includes mental retardation and renal functional impairment. Approximately 75% of cases of OFD1 are sporadic, and the condition occurs almost exclusively in females. In familial cases, the most likely mode of inheritance is considered to be X-linked...

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Identifiers

PMID: 9215688
DOI: 10.1093/hmg/6.7.1163

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3PMID 9215688Read ↗

Identification of the gene for oral-facial-digital type I syndrome.Semantic proximity Read ↗

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.Semantic proximity Read ↗

Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families.Semantic proximity Read ↗

The molecular basis of oral-facial-digital syndrome, type 1.Semantic proximity Read ↗

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

Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant.Semantic proximity Read ↗

Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls.Semantic proximity Read ↗

[Oral-facial-digital syndrome type I. A case report].Semantic proximity Read ↗

[Pathological variant of OFD1 gene identified in a pedigree affected with oral-facial-digital syndrome type 1].Semantic proximity Read ↗

Regional selection acting on the OFD1 gene family.Semantic proximity Read ↗

Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification.Semantic proximity Read ↗

Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1.Semantic proximity Read ↗

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