Associated Papers
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Choufani S et al.
American Journal of Human Genetics, 2022
Case Report: Exome and RNA Sequencing Identify a Novel de novo Missense Variant in HNRNPK in a Chinese Patient With Au-Kline Syndrome.
Pan X et al.
Frontiers in Genetics, 2022
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.
Au PYB et al.
European Journal of Human Genetics : Ejhg, 2018
Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.
Dentici ML et al.
Clinical Genetics, 2018
A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.
Lange L et al.
Clinical Genetics, 2016
36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2016
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.
Au PYB et al.
Human Mutation, 2015
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