| Title: |
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder |
| Authors: |
Khalaf-Nazzal, Reham; Fasham, James; Inskeep, Katherine A.; Blizzard, Lauren E.; Leslie, Joseph S.; Wakeling, Matthew N.; Ubeyratna, Nishanka; Mitani, Tadahiro; Griffith, Jennifer L.; Baker, Wisam; Al-Hijawi, Fida’; Keough, Karen C.; Gezdirici, Alper; Pena, Loren; Spaeth, Christine G.; Turnpenny, Peter D.; Walsh, Joseph R.; Ray, Randall; Neilson, Amber; Kouranova, Evguenia; Cui, Xiaoxia; Curiel, David T.; Pehlivan, Davut; Akdemir, Zeynep Coban; Posey, Jennifer E.; Lupski, James R.; Dobyns, William B.; Stottmann, Rolf W.; Crosby, Andrew H.; Baple, Emma L. |
| Source: |
The American Journal of Human Genetics ; volume 109, issue 11, page 2068-2079 ; ISSN 0002-9297 |
| Publisher Information: |
Elsevier BV |
| Publication Year: |
2022 |
| Collection: |
ScienceDirect (Elsevier - Open Access Articles via Crossref) |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1016/j.ajhg.2022.09.012 |
| Availability: |
http://dx.doi.org/10.1016/j.ajhg.2022.09.012; https://api.elsevier.com/content/article/PII:S0002929722004153?httpAccept=text/xml; https://api.elsevier.com/content/article/PII:S0002929722004153?httpAccept=text/plain |
| Rights: |
https://www.elsevier.com/tdm/userlicense/1.0/ ; http://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.12049CEB |
| Database: |
BASE |