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Syndromic craniosynostosis caused by a novel missense variant in MAP4K4: Expanding the genotype-phenotype relationship in RASopathies.

Clinical genetics - 1 Aug 2024

Yoon Jihoon G, Yu Jung Woo, Shim Kyu Won, Kim Yong Oock, Lee Min Goo

Abstract excerpt

RASopathies represent a distinct class of neurodevelopmental syndromes caused by germline variants in the Ras/MAPK pathways. Recently, a novel disease-gene association was implicated in MAPK kinase kinase kinase 4 (MAP4K4), which regulates the upstream signals of the MAPK pathways. However, to our knowledge, only two studies have reported the genotype-phenotype relationships in the MAP4K4-related disorder. This...

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Identifiers

PMID: 38679877
DOI: 10.1111/cge.14539

Genes

MAP4K4

Variants

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