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Article

Further evidence of POP1 mutations as the cause of anauxetic dysplasia.

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

Elalaoui Siham Chafai, Laarabi Fatima Zahra, Mansouri Maria, Mrani Nidal Alaoui, Nishimura Gen, Sefiani Abdelaziz

Abstract excerpt

Anauxetic dysplasia (AAD, OMIM 607095) is a rare skeletal dysplasia inherited as an autosomal recessive trait, which is caused by mutations in RMRP and allelic to a more common disorder, cartilage hair hypoplasia (CHH). CHH is a multi-system disorder with a variety of extraskeletal changes. Whereas AAD is a bone-restricted disorder with a more severe skeletal phenotype: affected individuals are extremely short...

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Source

Identifiers

PMID: 27380734
DOI: 10.1002/ajmg.a.37839

Genes

POP1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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