PMC Articles for MedGen (Select 903881) - PMC

Result Filters

Links from MedGen

Items: 3

Select item 68000981.

Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis

Alexander Conant, Julian Curiel, Amy Pizzino, Parisa Sabetrasekh, Jennifer Murphy, Miriam Bloom, Sarah H. Evans, Guy Helman, Ryan J. Taft, Cas Simons, Matthew T. Whitehead, Steven A. Moore, Adeline Vanderver

J Child Neurol. Author manuscript; available in PMC 2019 Oct 18.

Published in final edited form as: J Child Neurol. 2018 Sep; 33(10): 642–650. Published online 2018 Jun 8. doi: 10.1177/0883073818776157

PMCID:: PMC6800098

Abstract Article PDF–1.9M

Select item 43505882.

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

Claire Laure Navarro, Vera Esteves-Vieira, Sébastien Courrier, Amandine Boyer, Thuy Duong Nguyen, Le Thi Thanh Huong, Peter Meinke, Winnie Schröder, Valérie Cormier-Daire, Yves Sznajer, David J Amor, Kristina Lagerstedt, Martine Biervliet, Peter C van den Akker, Pierre Cau, Patrice Roll, Nicolas Lévy, Catherine Badens, Manfred Wehnert, Annachiara De Sandre-Giovannoli

Eur J Hum Genet. 2014 Aug; 22(8): 1002–1011. Published online 2013 Oct 30. doi: 10.1038/ejhg.2013.258