Two SMARCAD1 Variants Causing Basan Syndrome in a Canadian and a Dutch Family

Basan syndrome is an autosomal dominant genodermatosis characterized by congenital adermatoglyphia, transient congenital facial milia, neonatal acral bullae, and absent or reduced sweating. Basan syndrome is rare and has been reported in only 10 kindreds worldwide. It is caused by variants in the sk...

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Detalles Bibliográficos
Autores principales: Elhaji, Youssef, van Henten, Tessa M.A., Ruivenkamp, Claudia A.L., Nightingale, Mathew, Santen, Gijs WE, Vos, Lydia E., Hull, Peter R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8659716/
https://www.ncbi.nlm.nih.gov/pubmed/34909722
http://dx.doi.org/10.1016/j.xjidi.2021.100022

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8659716/
https://www.ncbi.nlm.nih.gov/pubmed/34909722
http://dx.doi.org/10.1016/j.xjidi.2021.100022

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