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Titel:

Mutations in the human UBR1 gene and the associated phenotypic spectrum.

Dokumenttyp:
Journal Article; Review; Article
Autor(en):
Sukalo, Maja; Fiedler, Ariane; Guzmán, Celina; Spranger, Stephanie; Addor, Marie-Claude; McHeik, Jiad N; Oltra Benavent, Manuel; Cobben, Jan M; Gillis, Lynette A; Shealy, Amy G; Deshpande, Charu; Bozorgmehr, Bita; Everman, David B; Stattin, Eva-Lena; Liebelt, Jan; Keller, Klaus-Michael; Bertola, Débora Romeo; van Karnebeek, Clara D M; Bergmann, Carsten; Liu, Zhifeng; Düker, Gesche; Rezaei, Nima; Alkuraya, Fowzan S; O?ur, Gönül; Alrajoudi, Abdullah; Venegas-Vega, Carlos A; Verbeek, Nienke E; Rich...     »
Abstract:
Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree. This syndrome is caused by a defect of the E3 ubiquitin ligase UBR1, which is part of the proteolytic N-end rule pathway. Herein, we review previously reported (n = 29) and a to...     »
Zeitschriftentitel:
Hum Mutat
Jahr:
2014
Band / Volume:
35
Heft / Issue:
5
Seitenangaben Beitrag:
521-31
Sprache:
eng
Volltext / DOI:
doi:10.1002/humu.22538
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/24599544
Print-ISSN:
1059-7794
TUM Einrichtung:
Else Kröner-Fresenius-Zentrum für Ernährungsmedizin - Klinik für Ernährungsmedizin
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