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Titel:

Clinical picture, evolution and peculiar molecular findings in a very large pedigree with Wolfram syndrome.

Dokumenttyp:
Journal Article; Article
Autor(en):
Lombardo, F; Chiurazzi, P; Hortnagel, K; Arrigo, T; Valenzise, M; Meitinger, T; Messina, MF; Salzano, G; Barberi, I; de Luca, F
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
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/16459465
Print-ISSN:
0334-018X
TUM Einrichtung:
Institut für Humangenetik
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