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Dokumenttyp:
journal article 
Autor(en):
Hoefele, Julia; Mayer, Karin; Marschall, Christoph; Alberer, Martin; Klein, Hanns-Georg; Kirschstein, Martin 
Titel:
Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease. 
Abstract:
There are several clinical reports about the co-occurrence of autosomal dominant polycystic kidney disease (ADPKD) and connective tissue disorders. A simultaneous occurrence of osteogenesis imperfecta (OI) type I and ADPKD has not been observed so far.This report presents the first patient with OI type I and ADPKD.Mutational analysis of PKD1 and COL1A1 in the index patient revealed a heterozygous mutation in each of the two genes. Mutational analysis of the parents indicated the mother as a carr...    »
 
Zeitschriftentitel:
World J Pediatr 
Jahr:
2016 
Band / Volume:
12 
Heft / Issue:
Seitenangaben Beitrag:
501-503 
Sprache:
eng 
Print-ISSN:
1708-8569 
TUM Einrichtung:
Institut für Humangenetik