Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/Occipital horn syndrome in three affected males in a single family - 25/08/11
Doi : 10.1016/j.jpeds.2004.04.033
Bettina Borm, MD, Lisbeth Birk Møller, PhD, Ingrid Hausser, MD, PhD, Michael Emeis, MD, Kurt Baerlocher, MD, Nina Horn, DMSc, PhD, Rainer Rossi, MD, PhD ⁎ 
From the Department of Pediatrics, Klinikum Neukölln, Berlin, Department of Dermatology, Electron Microscopic Laboratory, University of Heidelberg, Germany; The John F. Kennedy Institute, Glostrup, Denmark; and Ostschweizer Children's Hospital, St Gallen, Switzerland
Reprint requests: Prof Dr R. Rossi, Klinik für Kinder- und Jugendmedizin, Klinikum Neukölln, Mariendorfer Weg 28, D – 12051 Berlin.Abstract |
Two maternal half-brothers presented with huge cephalic hematoma, fatal in one. Skin morphology disclosed lack of elastic fibres. Their maternal uncle is moderately mentally handicapped and has extensive connective tissue disorders. In all these patients, an identical missense mutation in the ATP7A gene was found and confirmed Menkes' disease.
Il testo completo di questo articolo è disponibile in PDF.Abbreviations : ATP7A, Cu, MD, OHS, P-domain
Mappa
 | The molecular studies were supported by The Novo Nordisk Foundation, The Danish Medical Council, and the Foundation of 1870. |
© 2004
Elsevier Inc. Tutti i diritti riservati.
Vol 145 - N° 1
P. 119-121 - luglio 2004 Ritorno al numero
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