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Article

Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A.

American journal of medical genetics. Part A - 1 Feb 2018

Perez Katia M, Lee Evon B, Kahanda Sachini, Duis Jessica, Reyes Monica, Jüppner Harald, Shoemaker Ashley H

Abstract excerpt

Pseudohypoparathyroidism 1A (PHP1A) is a rare, genetic disorder. Most patients with PHP1A have cognitive impairment but this has not been systematically studied. We hypothesized that children with PHP1A would have lower intelligent quotient (IQ) scores than controls. To evaluate cognition and behavior, we prospectively enrolled children with PHP1A, one unaffected sibling (when available) and controls matched on...

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Identifiers

PMID: 29193623
DOI: 10.1002/ajmg.a.38534
PMCID: PMC5942181

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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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