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Article

Familial café au lait spots: a variant of neurofibromatosis type 1.

Journal of medical genetics - 1 Dec 1995

Abeliovich D, Gelman-Kohan Z, Silverstein S, Lerer I, Chemke J, Merin S, Zlotogora J

Abstract excerpt

Café au lait spots (CALS) are a frequent and one of the early manifestations of neurofibromatosis 1 (NF1). However, there are patients with isolated CALS who do not meet the diagnostic criteria for NFI. There are several reports of families in which CALS are inherited as an autosomal dominant trait, without any other features of NFI. In one reported family with dominantly inherited CALS linkage to the NF1 locus...

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Identifiers

PMID: 8825931
DOI: 10.1136/jmg.32.12.985
PMCID: PMC1051784

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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.

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