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Document type:
Case Reports; Journal Article 
Author(s):
Steichen-Gersdorf, Elisabeth; Lorenz-Depiereux, Bettina; Strom, Tim Matthias; Shaw, Nicholas J 
Title:
Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1. 
Abstract:
Autosomal 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 (ENPP1) causes a wide spectrum of phenotypes, ranging from lethal generalized arterial calcification of infancy to hypophosphatemic rickets with hypertension. Hearing loss was not previously thought to be one of the features of the disease entities and was merely regarded as a complication...    »
 
Journal title abbreviation:
J Pediatr Endocrinol Metab 
Year:
2015 
Journal volume:
28 
Journal issue:
7-8 
Pages contribution:
967-70 
Language:
eng 
Fulltext / DOI:
Print-ISSN:
0334-018X 
TUM Institution:
Institut für Humangenetik