Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome

• Published in: American journal of human genetics Vol. 104; no. 6; pp. 1139 - 1157
• Main Authors: Bauer, Christiane K., Schneeberger, Pauline E., Kortüm, Fanny, Altmüller, Janine, Santos-Simarro, Fernando, Baker, Laura, Keller-Ramey, Jennifer, White, Susan M., Campeau, Philippe M., Gripp, Karen W., Kutsche, Kerstin
• Format: Journal Article
• Language: English
• Published: Elsevier Inc 06.06.2019; Elsevier

Zimmermann-Laband syndrome (ZLS) is characterized by coarse facial features with gingival enlargement, intellectual disability (ID), hypertrichosis, and hypoplasia or aplasia of nails and terminal phalanges. De novo missense mutations in KCNH1 and KCNK4, encoding K+ channels, have been identified in...