Article
A family with atypical Hailey Hailey disease--is there more to the underlying genetics than ATP2C1?
PloS one - 1 Jan 2015
van Beek Nina, Patsatsi Aikaterini, Gupta Yask, Möller Steffen, Freitag Miriam, Lemcke Susanne, Recke Andreas, Zillikens Detlef, Schmidt Enno, Ibrahim Saleh
Abstract excerpt
The autosomal dominant Hailey Hailey disease (HHD) is caused by mutations in the ATP2C1 gene encoding for human secretory pathway Ca2+/Mn2+ ATPase protein (hSPCA1) in the Golgi apparatus. Clinically, HHD presents with erosions and hyperkeratosis predominantly in the intertrigines. Here we report an exome next generation sequencing (NGS) based analysis of ATPase genes in a Greek family with 3 HHD patients...
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