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Article

Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly.

Irish journal of medical science - 1 Dec 2022

Aryan Hajar, Zokaei Shaghayegh, Farhud Dariush, Keykhaei Mohammad, Ashrafi Mahmoud Reza, Rasulinezhad Maryam, Hosseini Seyyed Mohammad Mahdi, Razmara Ehsan, Tavasoli Ali Reza

Abstract excerpt

BACKGROUND: Microcephaly is a prominent feature of patients with primary autosomal recessive microcephaly 2 (MCPH2) caused by mutations in the WD Repeat Domain 62 (WDR62; OMIM: 613,583). AIM: The study aimed to identify the underlying genetic factor(s) causing microcephaly in two patients in a consanguineous Iranian family. METHODS: Two male patients (11 and 27 years old) were noticed due to microcephaly,...

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Identifiers

PMID: 35031939
DOI: 10.1007/s11845-021-02890-y

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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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