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Article

Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.

American journal of medical genetics. Part A - 1 Sept 2016

de Lange Iris M, Verrijn Stuart Annemarie A, van der Luijt Rob B, Ploos van Amstel Hans Kristian, van Haelst Mieke M

Abstract excerpt

Pseudohypoparathyroidism (PHP) is a genetic disorder with resistance to parathyroid hormone (PTH) as most important feature. Main subtypes of the disease are pseudohypoparathyroidism 1b (PHP1b) and pseudohypoparathyroidism 1a (PHP1a). PHP1b is characterized by PTH resistance of the renal cortex due to reduced activity of the stimulatory G protein α subunit (Gsα) of the PTH receptor. In addition to resistance to...

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Source

Identifiers

PMID: 27338644
DOI: 10.1002/ajmg.a.37818

Genes

PTH
STX16
GNAS

Provenance

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Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.PMID 27338644Read ↗

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