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Article

A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1.

American journal of human genetics - 1 May 1997

Engle E C, Castro A E, Macy M E, Knoll J H, Beggs A H

Abstract excerpt

Hereditary isolated congenital ptosis is an autosomal dominant disorder with incomplete penetrance characterized by a variable degree of unilateral or bilateral drooping of the upper eyelids. We report linkage of this disorder in a large family to markers on chromosome 1p. In our sample of 37 meioses, nine informative markers did not recombine with the disease. D1S2677 gave a maximum two-point LOD score of 8.8 on...

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Share to Chromosome Mapping
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to In Situ Hybridization, Fluorescence

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Identifiers

PMID: 9150162
PMCID: PMC1712439

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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