A New Form of Ectodermal Dysplasia Caused by Mutations in TSPEAR

April 2016 in “ Journal of Investigative Dermatology ”

A. Peled, Ofer Sarig, Liat Samuelov, Marta Bertolini, Limor Ziv, Daphna Weissglas‐Volkov, Marina Eskin‐Schwartz, Christopher A. Adase, N. Malchin, Ron Bochner, Gilad Fainberg, Koji Sugawara, Avital Baniel, Daisuke Tsuruta, C. Luxemburg, Noam Adir, Ivan Goldberg, Richard L. Gallo, Noam Shomron, Ralf Paus, Eli Sprecher

ectodermal dysplasia TSPEAR scalp hypotrichosis body hypertrichosis NOTCH signaling keratinocytes NOTCH1 TP63 TGFBR2 siRNA hair follicles hair keratin hair loss hair growth hair development gene mutations

Studysummary Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.

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