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Article

Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay.

American journal of medical genetics. Part A - 1 Nov 2015

Takenouchi Toshiki, Kosaki Rika, Niizuma Takahiro, Hata Kenichiro, Kosaki Kenjiro

Abstract excerpt

The combinatory phenotype of thrombocytopenia and developmental delay has been described for two genetic conditions: a chromosome 11q deletion that is referred to as Jacobsen syndrome, and a 21q22 microdeletion syndrome. Herein, we report a young girl who presented with persistent macrothrombocytopenia and a developmental delay. Whole exome sequencing revealed a de novo amino acid substitution in CDC42, a...

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Source

Identifiers

PMID: 26386261
DOI: 10.1002/ajmg.a.37275

Genes

CDC42

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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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Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay.PMID 26386261Read ↗

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