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Article

Coinheritance of two rare genodermatoses (Papillon-Lefèvre syndrome and oculocutaneous albinism type 1) in two families: a genetic study.

The British journal of dermatology - 1 Dec 2004

Hewitt C, Wu C-L, Hattab F N, Amin W, Ghaffar K A, Toomes C, Sloan P, Read A P, James J A, Thakker N S

Abstract excerpt

The co-occurrence of two rare recessive genetic conditions in apparently unrelated individuals or families is extremely rare. Two geographically distant and apparently unrelated families were identified in which individuals were simultaneously affected by two rare recessive mendelian syndromes, Papillon-Lefevre syndrome and type 1 oculocutaneous albinism. The families were tested for mutations in the causative...

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Source

Identifiers

PMID: 15606524
DOI: 10.1111/j.1365-2133.2004.06237.x

Genes

CTSC
TYR

Variants

Provenance

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.

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