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Article

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.

Clinical genetics - 1 Feb 2018

Dentici Maria Lisa, Barresi Sabina, Niceta Marcello, Pantaleoni Francesca, Pizzi Simone, Dallapiccola Bruno, Tartaglia Marco, Digilio Maria Cristina

Abstract excerpt

Kabuki syndrome is a genetically heterogeneous disorder characterized by postnatal growth retardation, skeletal abnormalities, intellectual disability, facial dysmorphisms and a variable range of organ malformations. In ~30% of affected individuals, the underlying genetic defect remains unknown. A small number of inactivating heterozygous HNRNPK mutations has recently been reported to be associated with a...

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Identifiers

PMID: 28374925
DOI: 10.1111/cge.13029

Genes

HNRNPK

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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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