Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn-syndrome.

Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn-syndrome.
Br J Dermatol. 2020 Apr 13;:
Authors: Ralser DJ, Kumar S, Borisov O, Sarig O, Richard G, Wolf S, Krawitz PM, Sprecher E, Kreiß M, Betz RC
Abstract
Naegeli-Franceschetti-Jadassohn syndrome (NFJS; Mendelian Inheritance in Man (MIM) 161000) is a rare, autosomal-dominant ectodermal dysplasia.1 Affected individuals present with a heterogenous spectrum of ectodermal abnormalities. The most distinctive features are absent dermatoglyphics, reticulate hyperpigmentation of the skin, palmoplantar keratoderma, and decreased sweating. Other features may include abnormalities of the teeth, hair, nails, and skin.
PMID: 32282935 [PubMed - as supplied by publisher]

Source: The British Journal of Dermatology - April 12, 2020 Category: Dermatology Authors: Ralser DJ, Kumar S, Borisov O, Sarig O, Richard G, Wolf S, Krawitz PM, Sprecher E, Kreiß M, Betz RC Tags: Br J Dermatol Source Type: research