Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Analysis of clinical features and genetic variant in a neonate with Au-Kline syndrome due to a de novo variant of the HNRNPK gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2023

Chen Jun, Dai Liyin, Zheng Hong, Liu Guanghui, Zhao Yuwei, Wang Juan

Abstract excerpt

OBJECTIVE: To explore the clinical phenotype and genetic basis of a neonate with Au-Kline syndrome (AKS). METHODS: Clinical data and result of genetic testing of a neonate with AKS who was admitted to the Affiliated Provincial Children's Hospital of Anhui Medical University in January 2021 were retrospectively analyzed. Relevant literature was searched from the Wanfang Data Knowledge Service Platform, China...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Intellectual Disability

Share to Mutation

Source

Identifiers

PMID: 36709946
DOI: 10.3760/cma.j.cn511391-20210524-00437

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Analysis of clinical features and genetic variant in a neonate with Au-Kline syndrome due to a de novo variant of the HNRNPK gene].PMID 36709946Read ↗

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

[Analysis of a child with neurodevelopmental disorders due to variant of HNRNPU gene and a literature review].Semantic proximity Read ↗

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.Semantic proximity Read ↗

De novo mutations in HNRNPU result in a neurodevelopmental syndrome.Semantic proximity Read ↗

Expanding the Phenotypic Spectrum of HNRNPU-Related Disorder, Documenting the First Familial Presentation and Comprehensive Review.Semantic proximity Read ↗

[Clinical and genetic analysis of three children with KBG syndrome due to novel variants of ANKRD11 gene].Semantic proximity Read ↗

Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature reviewSemantic proximity Read ↗

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.Semantic proximity Read ↗

[Clinical phenotype and genetic analysis of a child with CAKUTHED syndrome due to variant of PBX1 gene].Semantic proximity Read ↗

Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.Semantic proximity Read ↗

A Case of CSNK2A1 Gene Variant Causing Okur-Chung Syndrome and Analysis of the Clinical Phenotypic Spectrum.Semantic proximity Read ↗

Ade novoframeshift inHNRNPKcausing a Kabuki-like syndrome with nodular heterotopiaSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.