## 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 ShahβWaardenburg syndrome, comprising sensor
Arena syndrome is caused by a missense mutation in PLP1
β Scribed by Roger E. Stevenson; Patrick Tarpey; Melanie M. May; Michael R. Stratton; Charles E. Schwartz
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 44 KB
- Volume
- 149A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
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