Wolfram syndrome. How much could knowledge challenge the fate? A case report

Wolfram syndrome (WS) is a rare, autosomic recessive genetic disorder. The mortality rate of WS is about 65% before 35 years of age. It presents diagnostic challenges in the clinical practice due to its incomplete characterization. This report represents the first case of undiagnosed Wolfram syndrom...

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Veröffentlicht in:	Medical science monitor 2005-07, Vol.11 (7), p.CS40-CS44
Hauptverfasser:	Fabbri, Lea Paola, Nucera, Maria, Grippo, Antonello, Menicucci, Adriana, De Feo, Maria Laura, Becchi, Chiara, Al Malyan, Mohamed
Format:	Artikel
Sprache:	eng
Schlagworte:	Female Humans Middle Aged Pneumonia - etiology Respiratory Insufficiency - etiology Wolfram Syndrome - complications Wolfram Syndrome - diagnosis Wolfram Syndrome - genetics
Online-Zugang:	Volltext
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