Benutzer: Gast  Login
Mehr Felder
Einfache Suche
Titel:

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

Dokumenttyp:
Case Reports; Journal Article
Autor(en):
Steichen-Gersdorf, Elisabeth; Lorenz-Depiereux, Bettina; Strom, Tim Matthias; Shaw, Nicholas J
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:
doi:10.1515/jpem-2014-0531
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/25741938
Print-ISSN:
0334-018X
TUM Einrichtung:
Institut für Humangenetik
 BibTeX