De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome
Am J Hum Genet
.
2019 Apr 4;104(4):778.
doi: 10.1016/j.ajhg.2019.03.016.
Epub 2019 Mar 28.
Authors
Elizabeth E Palmer
,
Seungbeom Hong
,
Fatema Al Zahrani
,
Mais O Hashem
,
Fajr A Aleisa
,
Heba M Jalal Ahmed
,
Tejaswi Kandula
,
Rebecca Macintosh
,
Andre E Minoche
,
Clare Puttick
,
Velimir Gayevskiy
,
Alexander P Drew
,
Mark J Cowley
,
Marcel Dinger
,
Jill A Rosenfeld
,
Rui Xiao
,
Megan T Cho
,
Suliat F Yakubu
,
Lindsay B Henderson
,
Maria J Guillen Sacoto
,
Amber Begtrup
,
Muddathir Hamad
,
Marwan Shinawi
,
Marisa V Andrews
,
Marilyn C Jones
,
Kristin Lindstrom
,
Ruth E Bristol
,
Saima Kayani
,
Molly Snyder
,
Marıá Mercedes Villanueva
,
Angeles Schteinschnaider
,
Laurence Faivre
,
Christel Thauvin
,
Antonio Vitobello
,
Tony Roscioli
,
Edwin P Kirk
,
Ann Bye
,
Jasmeen Merzaban
,
Łukasz Jaremko
,
Mariusz Jaremko
,
Rani K Sachdev
,
Fowzan S Alkuraya
,
Stefan T Arold
PMID:
30929740
PMCID:
PMC6451740
DOI:
10.1016/j.ajhg.2019.03.016
No abstract available
Publication types
Published Erratum