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Article

Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletion.

Journal of pediatric endocrinology & metabolism : JPEM - 29 Jan 2024

Odom John, Bacino Carlos A, Karaviti Lefkothea P, Bi Weimin, Hoyos-Martinez Alfonso

Abstract excerpt

OBJECTIVES: Pseudohypoparathyroidism (PHP1B) is most commonly caused by epigenetic defects resulting in loss of methylation at the GNAS locus, although deletions of STX16 leading to GNAS methylation abnormalities have been previously reported. The phenotype of this disorder is variable and can include hormonal resistances and severe infantile obesity with hyperphagia. A possible time relationship between the...

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Source

Identifiers

PMID: 38095637
DOI: 10.1515/jpem-2023-0249

Provenance

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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