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Dokumenttyp:
journal article 
Autor(en):
Lombardo, F; Chiurazzi, P; Hörtnagel, K; Arrigo, T; Valenzise, M; Meitinger, T; Messina, MF; Salzano, G; Barberi, I; De Luca, F 
Titel:
Clinical picture, evolution and peculiar molecular findings in a very large pedigree with Wolfram syndrome. 
Abstract:
OBJECTIVES: a) To describe a very extended inbred pedigree with Wolfram syndrome (WS) (OMIM #222300); b) to report both the clinical picture and evolution in this large family and a peculiar mutation which has been reported hitherto only in Italian patients. DESIGN: The five-generation pedigree from Sicily was reconstructed through a proband with all the main manifestation of WS, born to a couple of healthy consanguineous parents. DNA examination was performed in both patients and healthy famil...    »
 
Zeitschriftentitel:
J Pediatr Endocrinol Metab 
Jahr:
2005 
Band / Volume:
18 
Heft / Issue:
12 
Seitenangaben Beitrag:
1391-7 
Sprache:
eng 
Print-ISSN:
0334-018X 
TUM Einrichtung:
r Humangenetik