Homozygosity for piebaldism with a proven KIT mutation resulting in depigmentation of the skin and hair, deafness, developmental delay and autism spectrum disorder.
Clin Dysmorphol. 2013 Apr;22(2):64-67. doi: 10.1097/MCD.0b013e32835e8ce5.
Clin Dysmorphol. 2013.
PMID: 23399981
No abstract available.