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

Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype.

American journal of medical genetics. Part A - 1 Apr 2020

Peron Angela, Novara Francesca, La Briola Francesca, Merati Elisabetta, Giannusa Emanuela, Segalini Elena, Anniballi Gloria, Vignoli Aglaia, Ciccone Roberto, Canevini Maria Paola

Abstract excerpt

Missense variants in HNRNPH2 cause Bain type syndromic X-linked intellectual disability (XLID). To date, only six affected females and three affected males have been reported in the literature, and the phenotype has yet to be delineated in detail. Here, we report on a 35-year-old female with a novel de novo variant in HNRNPH2, providing further evidence that missense changes in the nuclear localization sequence...

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 Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Mutation, Missense

Share to Phenotype

Share to X-Linked Intellectual Disability

Source

Identifiers

PMID: 31943778
DOI: 10.1002/ajmg.a.61486

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

Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype.PMID 31943778Read ↗

Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.Semantic proximity Read ↗

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.Semantic proximity Read ↗

HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.Semantic proximity Read ↗

Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.Semantic proximity Read ↗

Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2 -Related Neurodevelopmental DisorderSemantic proximity Read ↗

Novel unconventional variants expand the allelic spectrum of OPHN1 gene.Semantic proximity Read ↗

A boy with dysmorphic features, intellectual disability, and biallelic homozygous deletion in NRXN1.Semantic proximity Read ↗

A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.Semantic proximity Read ↗

Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.Semantic proximity Read ↗

A murine model of hnRNPH2-related neurodevelopmental disorder recapitulates clinical features of human disease and reveals a mechanism for genetic compensation of <i>HNRNPH2</i>Semantic proximity Read ↗

Genetic Basis of Hypsarrhythmia: Expanding the PHACTR1 Spectrum and Pathway to Targeted Therapy.Semantic proximity Read ↗

Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.Semantic proximity Read ↗

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