Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca(2+)-Activated K(+) Channel SK3 Cause Zimmermann-Laband Syndrome

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...

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Pubblicato in:Am J Hum Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2019
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6562147/
https://ncbi.nlm.nih.gov/pubmed/31155282
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.04.012
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