Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss

BACKGROUND: Pathogenic variants in KITLG, a crucial protein involved in pigmentation and neural crest cell migration, cause non‐syndromic hearing loss, Waardenburg syndrome type 2, familial progressive hyperpigmentation and familial progressive hyper‐ and hypopigmentation, all of which are inherited...

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Detalles Bibliográficos
Autores principales: Vona, B., Schwartzbaum, D.A., Rodriguez, A.A., Lewis, S.S., Toosi, M.B., Radhakrishnan, P., Bozan, N., Akın, R., Doosti, M., Manju, R., Duman, D., Sineni, C.J., Nampoothiri, S., Karimiani, E.G., Houlden, H., Bademci, G., Tekin, M., Girisha, K.M., Maroofian, R., Douzgou, S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Jeadv September Issue
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9546089/
https://www.ncbi.nlm.nih.gov/pubmed/35543077
http://dx.doi.org/10.1111/jdv.18207

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9546089/
https://www.ncbi.nlm.nih.gov/pubmed/35543077
http://dx.doi.org/10.1111/jdv.18207

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