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Article

Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism.

European journal of human genetics : EJHG - 1 Jan 2024

Yap Patrick, Riley Lisa G, Kakadia Purvi M, Bohlander Stefan K, Curran Ben, Rahimi Meer Jacob, Alburaiky Salam, Hayes Ian, Oppermann Henry, Print Cristin, Cooper Sandra T, Le Quesne Stabej Polona

Abstract excerpt

ATP2B1 encodes plasma membrane calcium-transporting-ATPase1 and plays an essential role in maintaining intracellular calcium homeostasis that regulates diverse signaling pathways. Heterozygous de novo missense and truncating ATP2B1 variants are associated with a neurodevelopmental phenotype of variable expressivity. We describe a proband with distinctive craniofacial gestalt, Pierre-Robin sequence,...

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Identifiers

PMID: 37926713
DOI: 10.1038/s41431-023-01484-9
PMCID: PMC10772071

Genes

ATP2B1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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