Reply to Nellen et al's Comment on the Classification of Clinical/genetic Variants of Mal de Meleda.

Autor: Linshu Zhao, Vahlquist, Anders, Virtanen, Marie, Wennerstrand, Lena, Lind, Lisbet K., Lundström, Anita, Hellström Pigg, Maritta
Předmět:
Zdroj: Acta Dermato-Venereologica; Nov2015, Vol. 95 Issue 8, p1034-1035, 2p
Abstrakt: The article presents the authors' reply to comments made by R. G. L. Nellen regarding the classification of clinical/genetic variants of Mal de Meleda (MdM). They point out that their demonstration of recurrent and novel SLURP-1 mutations in Swedish patients with PPK-GN clearly identified the entity as a mild variant of MdM similar to what has been found in isolated cases of MdM in several countries including Holland.
Databáze: Complementary Index