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Article

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.

European journal of human genetics : EJHG - 1 Sept 2018

Au P Y Billie, Goedhart Caitlin, Ferguson Marcia, Breckpot Jeroen, Devriendt Koenraad, Wierenga Klaas, Fanning Elizabeth, Grange Dorothy K, Graham Gail E, Galarreta Carolina, Jones Marilyn C, Kini Usha, Stewart Helen, Parboosingh Jillian S, Kline Antonie D, Innes A Micheil

Abstract excerpt

Au-Kline syndrome (AKS, OMIM 616580) is a multiple malformation syndrome, first reported in 2015, associated with intellectual disability. AKS has been associated with de novo loss-of-function variants in HNRNPK (heterogeneous ribonucleoprotein K), and to date, only four of these patients have been described in the literature. Recently, an additional patient with a missense variant in HNRNPK was also reported....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29904177
DOI: 10.1038/s41431-018-0187-2
PMCID: PMC6117294

Genes

HNRNPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.PMID 29904177Read ↗

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