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Article

Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation.

Genes, brain, and behavior - 1 Sept 2016

Guerreiro R, Brás J, Batista S, Pires P, Ribeiro M H, Almeida M R, Oliveira C, Hardy J, Santana I

Abstract excerpt

Pseudohypoparathyroidism type 1b (PHP1b) is characterized by hypocalcemia, hyperphosphatemia, increased levels of circulating parathyroid hormone (PTH), and no skeletal or developmental abnormalities. The goal of this study was to perform a full characterization of a familial case of PHP1b with neurological involvement and to identify the genetic cause of disease. The initial laboratory profile of the proband...

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Source

Open in PubMed Open full text

Identifiers

PMID: 27415614
DOI: 10.1111/gbb.12308
PMCID: PMC5026059

Genes

PTH

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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