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Article

Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani families.

BMC neurology - 5 Jun 2026

Ahmad Bilal, Adams Matthew, Javed Iram, Tariq Muhammad, Muhammad Anees, Harrold Laura, Almond Rebecca J, Ubeyratna Nishanka, Sarwar Muhammad Tahir, Leslie Joseph S, Crosby Andrew H, Baple Emma L, Rawlins Lettie E, Qasim Muhammad

Abstract excerpt

BACKGROUND: Autosomal recessive microcephaly encompasses a group of rare neurogenetic disorders in which microcephaly presents at birth or postnatally as part of a syndromic disorder. Autosomal recessive microcephaly is both clinically and genetically heterogeneous, with numerous genes associated. In the present study, we investigated the genetic basis of likely autosomal recessive microcephaly in a cohort of...

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Source

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Identifiers

PMID: 42249392
DOI: 10.1186/s12883-026-05027-9
PMCID: PMC13347985

Genes

ASPM
VPS13B

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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