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Article

Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients.

Molecular genetics & genomic medicine - 1 Mar 2022

Zhao Jianbo, Lyu Guizhen, Ding Changhong, Wang Xiaohui, Li Jiuwei, Zhang Weihua, Yang Xinying, Zhang Victor Wei

Abstract excerpt

BACKGROUND: The study aimed to investigate the clinical and genetic features of Rahman syndrome caused by HIST1H1E gene mutations. METHODS: We retrospectively analyzed the clinical information and genetic testing results of a Rahman syndrome family in an outpatient clinic in August 2020 and summarized the clinical characteristics of the HIST1H1E gene mutations in conjunction with peer-reviewed reports. RESULTS: A...

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Identifiers

PMID: 35156329
DOI: 10.1002/mgg3.1825
PMCID: PMC8922969

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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