A Recurrent De Novo PACS2 Heterozygous Missense Variant...

The American Journal of Human Genetics 2018 / 10 Vol. 103; Iss. 4

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Olson, Heather E., Jean-Marçais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A., Bijlsma, Emilia K., Krock, Bryan L., Backer, E., Kamsteeg, Erik-Jan, Sinnema, Ma
How much do you like this book?
What’s the quality of the file?
Download the book for quality assessment
What’s the quality of the downloaded files?
Volume:
103
Language:
english
Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2018.09.002
Date:
October, 2018
File:
PDF, 99 KB
english, 2018
Conversion to is in progress
Conversion to is failed