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Article

Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy.

Human mutation - 1 May 2017

Sleiman Patrick M A, March Michael, Nguyen Kenny, Tian Lifeng, Pellegrino Renata, Hou Cuiping, Dridi Walid, Sager Mohamed, Housawi Yousef H, Hakonarson Hakon

Abstract excerpt

Braddock-Carey Syndrome (BCS) is characterized by microcephaly, congenital thrombocytopenia, Pierre-Robin sequence (PRS), and agenesis of the corpus callosum. BCS has been shown to be caused by a 21q22.11 microdeletion that encompasses multiple genes. Here, we report a BCS genocopy characterized by congenital thrombocytopenia and PRS that is caused by a loss-of-function mutation in KIF15 in a consanguineous Saudi...

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Identifiers

PMID: 28150392
DOI: 10.1002/humu.23188

Genes

KIF15

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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