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Dokumenttyp:
Case Reports; Journal Article 
Autor(en):
Steichen-Gersdorf, Elisabeth; Lorenz-Depiereux, Bettina; Strom, Tim Matthias; Shaw, Nicholas J 
Titel:
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...    »
 
Zeitschriftentitel:
J Pediatr Endocrinol Metab 
Jahr:
2015 
Band / Volume:
28 
Heft / Issue:
7-8 
Seitenangaben Beitrag:
967-70 
Sprache:
eng 
Volltext / DOI:
Print-ISSN:
0334-018X 
TUM Einrichtung:
Institut für Humangenetik