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Article

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

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

Somashekar Puneeth H, Narayanan Dhanya L, Jagadeesh Sujatha, Suresh Beena, Vaishnavi Reddy D, Bielas Stephanie, Girisha Katta M, Shukla Anju

Abstract excerpt

Heterogeneous nuclear ribonucleoproteins (hnRNPs) are RNA binding proteins, which aid in maturation, stabilization, and transport of mRNA. They have a significant role in cellular nucleic acid metabolism. The hnRNPs alter gene expression and are linked to various neurodegenerative disorders and cancers. Previously, six unrelated girls with developmental delay, intellectual disability, and hypotonia were found to...

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Identifiers

PMID: 31670473
DOI: 10.1002/ajmg.a.61388
PMCID: PMC10052778

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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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