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...
Main Authors: | Youssef Elhaji, Tessa M.A. van Henten, Claudia A.L. Ruivenkamp, Mathew Nightingale, Gijs WE Santen, Lydia E. Vos, Peter R. Hull |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2021-09-01
|
Series: | JID Innovations |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2667026721000229 |
Similar Items
-
Clinical Features and Mutation Analysis of the SMARCAD1 Gene in a Family with Basan Syndrome and a Literature Review
by: LIU Zhouliang, et al.
Published: (2023-04-01) -
The Crimean Period in the Life of Basan Gorodovikov
by: Vladimir E. Polyakov
Published: (2021-10-01) -
Huriez syndrome: additional pathogenic variants supporting allelism to SMARCAD syndrome
by: Loh, Abigail Y. T., et al.
Published: (2022) -
Redesain Permainan Tradisional Bas-Basan Sepur
by: Erik Armayuda, et al.
Published: (2018-02-01) -
SMARCAD1 in Breast Cancer Progression
by: Kholoud Arafat, et al.
Published: (2018-10-01)