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Article

A de novo inframe deletion variant in CAPZA2 tentacle domain with global developmental delay and secondary microcephaly.

Clinical genetics - 1 Oct 2022

Pi Shanyu, Mao Xiao, Long Hongyu, Wang Hua

Abstract excerpt

(A) Sanger sequencing confirmation and family pedigree for the patient. (B) A schematic representation of transcript and translation showing the positions of all CAPZA2 variants identified.

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Developmental Disabilities
Infant
Microcephaly
Pedigree
Phenotype

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 35856264
DOI: 10.1111/cge.14186

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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