Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1-Reference-Cited by-同舟云学术

Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1

Published:2015-01-01 Issue:7-8 Volume:28 Page:
ISSN:2191-0251
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:
Short-container-title:

Author:

Steichen-Gersdorf Elisabeth,Lorenz-Depiereux Bettina,Strom Tim Matthias,Shaw Nicholas J.

Abstract

AbstractAutosomal recessive hypophosphatemic rickets 2 (ARHR2) is a rare form of renal tubular phosphate wasting disorder. Loss of function mutations of the ecto-nucleotide pyrophosphatase/pyrophosphodiesterase 1 gene (

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2014-0531/pdf

Reference30 articles.

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3. Rutsch Mutations in are associated with idiopathic infantile arterial calcification;Ruf;Nat Genet,2003

4. mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis;Lorenz;Nat Genet,2006

5. Impaired hearing in linked hypophospatemic vitamin - resistent osteomalacia;Davies;Ann Intern Med,1984

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1. Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal‐recessive hypophosphataemic rickets type 2;Clinical Endocrinology;2024-02-07

2. Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene;Frontiers in Endocrinology;2022-07-29

3. Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma;Human Mutation;2022-05-18

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