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Article

Novel insight into the phenotype of microcephaly 19 in the patient with missense COPB2 mutation.

European journal of medical genetics - 1 Oct 2023

Shiri Amirmasoud, Jafari Khamirani Hossein, Kamal Neda, Manoochehri Jamal, Dianatpour Mehdi, Tabei Seyed Mohammad Bagher, Dastgheib Seyed Alireza

Abstract excerpt

COPB2 gene encodes the Coatomer Protein Complex Subunit Beta-2 that plays a crucial role in the cellular vesicle transport system and it is essential for brain development during embryogenesis. Mutations in COPB2 lead to an extremely rare genetic disease named Microcephaly type 19 with autosomal recessive inheritance. This study describes a missense pathogenic homozygous variant (NM_004766.3:c.760 C > T,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37734708
DOI: 10.1016/j.ejmg.2023.104846

Genes

COPB2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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