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Article

De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.

Clinical genetics - 1 Oct 2020

Niemann Jan Hendrik, Du Chen, Morlot Susanne, Schmidt Gunnar, Auber Bernd, Kaune Beate, Göhring Gudrun, Ripperger Tim, Schlegelberger Brigitte, Hofmann Winfried, Smol Thomas, Ait-Yahya Emilie, Raimbault Anna, Lambilliotte Anne, Petit Florence, Steinemann Doris

Abstract excerpt

We present two independent cases of syndromic thrombocytopenia with multiple malformations, microcephaly, learning difficulties, dysmorphism and other features. Exome sequencing identified two novel de novo heterozygous variants in these patients, c.35G>T p.(Gly12Val) and c.178G>C p.(Gly60Arg), in the RAP1B gene (NM_001010942.2). These variants have not been described previously as germline variants, however...

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PMID: 32627184
DOI: 10.1111/cge.13807

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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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