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Genetic syndromes caused by mutations in epigenetic genes

✍ Scribed by Berdasco, María; Esteller, Manel


Book ID
120015298
Publisher
Springer
Year
2013
Tongue
English
Weight
509 KB
Volume
132
Category
Article
ISSN
0340-6717

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