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Navajo Neurohepatopathy Is Caused by a Mutation in the MPV17 Gene

โœ Scribed by Charalampos L. Karadimas; Tuan H. Vu; Stephen A. Holve; Penelope Chronopoulou; Catarina Quinzii; Stanley D. Johnsen; Janice Kurth; Elizabeth Eggers; Lluis Palenzuela; Kurenai Tanji; Eduardo Bonilla; Darryl C. De Vivo; Salvatore DiMauro; Michio Hirano


Book ID
117854875
Publisher
American Society of Human Genetics
Year
2006
Tongue
English
Weight
151 KB
Volume
79
Category
Article
ISSN
0002-9297

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ABCD syndrome is caused by a homozygous
โœ Verheij, Joke B.G.M. ;Kunze, J๏ฟฝrgen ;Osinga, Jan ;van Essen, Anthonie J. ;Hofstr ๐Ÿ“‚ Article ๐Ÿ“… 2002 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 106 KB ๐Ÿ‘ 2 views

## Abstract ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and deafness. This phenotype clearly overlaps with the features of the Shahโ€Waardenburg syndrome, comprising sensor