A5027617294- Genetic and rare skin diseases.
- melanin and skin pigmentation
- RNA regulation and disease
Dr. John T. Macdonald Foundation
2022
University of Miami
2022
Zero to Three
2022
Pathogenic variants in KITLG, a crucial protein involved pigmentation and neural crest cell migration, cause non-syndromic hearing loss, Waardenburg syndrome type 2, familial progressive hyperpigmentation hyper- hypopigmentation, all of which are inherited an autosomal dominant manner.To describe the genotypic clinical spectrum biallelic KITLG-variants.We used genotype-first approach through GeneMatcher data sharing platform to collect individuals with KITLG reviewed literature for...