## 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
Left-sided CHILD syndrome caused by a nonsense mutation in theNSDHL gene
β Scribed by Hummel, Marybeth ;Cunningham, David ;Mullett, Charles J. ;Kelley, Richard I. ;Herman, Gail E.
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 206 KB
- Volume
- 122A
- Category
- Article
- ISSN
- 0148-7299
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