De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
Chong, Jessica X., McMillin, Margaret J., Shively, Kathryn M., Beck, Anita E., Marvin, Colby T., Armenteros, Jose R., Buckingham, Kati J., Nkinsi, Naomi T., Boyle, Evan A., Berry, Margaret N., Bocian,Volume:
96
Language:
english
Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2015.01.003
Date:
March, 2015
File:
PDF, 876 KB
english, 2015