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Article

Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.

The Journal of clinical endocrinology and metabolism - 1 Nov 2017

Cinque Luigia, Sparaneo Angelo, Penta Laura, Mencarelli Amedea, Rogaia Daniela, Esposito Susanna, Fabrizio Federico Pio, Baorda Filomena, Verrotti Alberto, Falorni Alberto, Stangoni Gabriela, Hendy Geoffrey N, Guarnieri Vito, Prontera Paolo

Abstract excerpt

Context: Familial isolated hypoparathyroidism (FIH) is a genetically heterogeneous disorder due to mutations of the calcium-sensing receptor (CASR), glial cells missing-2 (GCM2), guanine nucleotide binding protein α11 (GNA11), or parathyroid hormone (PTH) genes. Thus far, only four cases with homozygous and two cases with heterozygous mutations in the PTH gene have been reported. Objective: To clinically describe...

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Identifiers

PMID: 28938448
DOI: 10.1210/jc.2017-00250

Genes

PTH
CASR
GCM2
GNA11

Variants

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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