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Article

Phenotypic diversity in autosomal recessive hypophosphatemic rickets type 2.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jul 2026

Al Qanoobi Maimoona, Al Badi Maryam, Al Sinani Aisha, Mughal M Zulf

Abstract excerpt

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) caused by biallelic ENPP1 mutations is a rare disorder with a broad phenotypic spectrum. We describe 3 affected siblings from a consanguineous family who presented with markedly heterogeneous clinical features. The proband exhibited classical signs of rickets with progressive lower-limb deformities, short stature, and elevated alkaline phosphatase. Her...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41665285
DOI: 10.1093/jbmr/zjag029

Genes

ENPP1
FGF23

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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