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Article

X linked recessive thrombocytopenia.

Journal of medical genetics - 1 Nov 1993

Knox-Macaulay H H, Bashawri L, Davies K E

Abstract excerpt

A Saudi Arab boy presented in early childhood with thrombocytopenia, morphologically large and normal sized platelets, increased mean platelet volume, and a hypermegakaryocytic bone marrow. There was no clinical and laboratory evidence of any significant immunological abnormalities. Similar findi...

Topics

Adolescent
Adult
Alleles
Blood Platelets
Cell Size
Child, Preschool
Female
Genes, Recessive
Humans
Infant, Newborn
Male
Pedigree
Phenotype
Thrombocytopenia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Wiskott-Aldrich Syndrome

X Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 8301658
DOI: 10.1136/jmg.30.11.968
PMCID: PMC1016612

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8301658-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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X linked recessive thrombocytopenia.PMID 8301658Read ↗

X-linked thrombocytopenia in three males with normal sized platelets due to novel WAS gene mutations.Semantic proximity Read ↗

X-linked thrombocytopenia in a female with a complex familial pattern of X-chromosome inactivation.Semantic proximity Read ↗

Monozygotic twin pair showing discordant phenotype for X-linked thrombocytopenia and Wiskott-Aldrich syndrome: a role for epigenetics?Semantic proximity Read ↗

[WASP gene mutation analysis of a family of X-linked thrombocytopenia].Semantic proximity Read ↗

X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.Semantic proximity Read ↗

WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.Semantic proximity Read ↗

[Inherited thrombocytopenias].Semantic proximity Read ↗

Clinical aspects and genetic analysis of taiwanese patients with wiskott-Aldrich syndrome protein mutation: the first identification of x-linked thrombocytopenia in the chinese with novel mutations.Semantic proximity Read ↗

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