Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes.

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Article

Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes.

American journal of human genetics - 1 Sept 1994

Schnur R E, Wick P A, Bailey C, Rebbeck T, Weleber R G, Wagstaff J, Grix A W, Pagon R A, Hockey A, Edwards M J

Abstract excerpt

One hundred nineteen individuals from 11 families with X-linked ocular albinism (OA1) were studied with respect to both their clinical phenotypes and their linkage genotypes. In a four-generation Australian family, two affected males and an obligatory carrier lacked cutaneous melanin macroglobules (MMGs); ocular features were identical to those of Nettleship-Falls OA1. Four other families had more unusual...

Topics

Albinism, Ocular
Chromosome Mapping
Female
Fundus Oculi
Gene Expression
Genetic Carrier Screening
Genetic Linkage
Genetic Variation
Genotype
Humans
Kallmann Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Melanocytes

Pedigree

Phenotype

Polymorphism, Restriction Fragment Length

Recombination, Genetic

Sex Chromosome Aberrations

Source

Open in PubMed Open full text

Identifiers

PMID: 7915878
PMCID: PMC1918399

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7915878-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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