ABCD syndrome is caused by a homozygous
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Verheij, Joke B.G.M. ;Kunze, J�rgen ;Osinga, Jan ;van Essen, Anthonie J. ;Hofstr
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Article
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2002
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John Wiley and Sons
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English
⚖ 106 KB
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## 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 Shah‐Waardenburg syndrome, comprising sensor