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Expanding the Clinical Phenotype Associated with the NIN Gene; Report of a Patient with Short Stature, Microcephaly and Hearing Loss.

Archives of Iranian medicine - 1 May 2025

Zamanian Najafabadi Shima, Ghorbanoghli Zeinab, Ghaderi Zhila, Afroozan Fariba, Talea Ali, Ahangari Fatemeh, Makvand Mina, Najmabadi Hossein, Kariminejad Ariana

Abstract excerpt

To date, there are very few reports regarding patients with bi-allelic variants in the NIN gene. There is one report of two sisters with severe short stature, microcephaly, and developmental delay with compound heterozygote missense variants in the NIN gene and one paper reporting a homozygote variant in the NIN gene with progressive, high-frequency sensorineural hearing loss in four siblings. The only other...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40751525
DOI: 10.34172/aim.33542
PMCID: PMC12305406

Genes

NIN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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