Early development of occipital horns in a classical Menkes patient.

作者: M. Gérard-Blanluet , L. Birk-Møller , N. Horn , I. Caubel , A. Gélot

DOI: 10.1002/AJMG.A.30155

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参考文章(7)
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Lisbeth Birk Møller, Zeynep Tümer, Connie Lund, Carsten Petersen, Trevor Cole, Ralf Hanusch, Jürg Seidel, Lars Riff Jensen, Nina Horn, Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. American Journal of Human Genetics. ,vol. 66, pp. 1211- 1220 ,(2000) , 10.1086/302857
Zeynep Tümer, Lisbeth Birk Møller, Nina Horn, Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A. Human Mutation. ,vol. 22, pp. 457- 464 ,(2003) , 10.1002/HUMU.10287
Leena Peltonen, Helena Kuivaniemi, Aarno Palotie, Nina Horn, Ilkka Kaitila, Kari I. Kivirikko, Alterations in copper and collagen metabolism in the Menkes syndrome and a new subtype of the Ehlers-Danlos syndrome. Biochemistry. ,vol. 22, pp. 6156- 6163 ,(1983) , 10.1021/BI00295A018
Virginia K. Proud, Holly G. Mussell, Stephen G. Kaler, Daniel W. Young, Alan K. Percy, Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotype American Journal of Medical Genetics. ,vol. 65, pp. 44- 51 ,(1996) , 10.1002/(SICI)1096-8628(19961002)65:1<44::AID-AJMG7>3.0.CO;2-Y
T. E. Herman, W. H. McAlister, A. Boniface, M. P. Whyte, Occipital horn syndrome. Additional radiographic findings in two new cases. Pediatric Radiology. ,vol. 22, pp. 363- 365 ,(1992) , 10.1007/BF02016258