Cargando…
Rare Cause of West syndrome secondary to Tubulinopathy due to Congenital Symmetric Circumferential Skin Creases (CSCSC) Kunze Type due to a Novel Variant in MAPRE2 Gene
Autores principales: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9175396/ https://www.ncbi.nlm.nih.gov/pubmed/35693690 http://dx.doi.org/10.4103/aian.AIAN_420_21 |
_version_ | 1784722447693512704 |
---|---|
author | Gowda, Vykuntaraju K. Srinivasan, Varunvenkat M. Reddy, Varsha Bhat, Maya |
author_facet | Gowda, Vykuntaraju K. Srinivasan, Varunvenkat M. Reddy, Varsha Bhat, Maya |
author_sort | Gowda, Vykuntaraju K. |
collection | PubMed |
description | |
format | Online Article Text |
id | pubmed-9175396 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-91753962022-06-09 Rare Cause of West syndrome secondary to Tubulinopathy due to Congenital Symmetric Circumferential Skin Creases (CSCSC) Kunze Type due to a Novel Variant in MAPRE2 Gene Gowda, Vykuntaraju K. Srinivasan, Varunvenkat M. Reddy, Varsha Bhat, Maya Ann Indian Acad Neurol Letters to the Editor Wolters Kluwer - Medknow 2022 2021-10-22 /pmc/articles/PMC9175396/ /pubmed/35693690 http://dx.doi.org/10.4103/aian.AIAN_420_21 Text en Copyright: © 2006 - 2021 Annals of Indian Academy of Neurology https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Letters to the Editor Gowda, Vykuntaraju K. Srinivasan, Varunvenkat M. Reddy, Varsha Bhat, Maya Rare Cause of West syndrome secondary to Tubulinopathy due to Congenital Symmetric Circumferential Skin Creases (CSCSC) Kunze Type due to a Novel Variant in MAPRE2 Gene |
title | Rare Cause of West syndrome secondary to Tubulinopathy due to Congenital Symmetric Circumferential Skin Creases (CSCSC) Kunze Type due to a Novel Variant in MAPRE2 Gene |
title_full | Rare Cause of West syndrome secondary to Tubulinopathy due to Congenital Symmetric Circumferential Skin Creases (CSCSC) Kunze Type due to a Novel Variant in MAPRE2 Gene |
title_fullStr | Rare Cause of West syndrome secondary to Tubulinopathy due to Congenital Symmetric Circumferential Skin Creases (CSCSC) Kunze Type due to a Novel Variant in MAPRE2 Gene |
title_full_unstemmed | Rare Cause of West syndrome secondary to Tubulinopathy due to Congenital Symmetric Circumferential Skin Creases (CSCSC) Kunze Type due to a Novel Variant in MAPRE2 Gene |
title_short | Rare Cause of West syndrome secondary to Tubulinopathy due to Congenital Symmetric Circumferential Skin Creases (CSCSC) Kunze Type due to a Novel Variant in MAPRE2 Gene |
title_sort | rare cause of west syndrome secondary to tubulinopathy due to congenital symmetric circumferential skin creases (cscsc) kunze type due to a novel variant in mapre2 gene |
topic | Letters to the Editor |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9175396/ https://www.ncbi.nlm.nih.gov/pubmed/35693690 http://dx.doi.org/10.4103/aian.AIAN_420_21 |
work_keys_str_mv | AT gowdavykuntarajuk rarecauseofwestsyndromesecondarytotubulinopathyduetocongenitalsymmetriccircumferentialskincreasescscsckunzetypeduetoanovelvariantinmapre2gene AT srinivasanvarunvenkatm rarecauseofwestsyndromesecondarytotubulinopathyduetocongenitalsymmetriccircumferentialskincreasescscsckunzetypeduetoanovelvariantinmapre2gene AT reddyvarsha rarecauseofwestsyndromesecondarytotubulinopathyduetocongenitalsymmetriccircumferentialskincreasescscsckunzetypeduetoanovelvariantinmapre2gene AT bhatmaya rarecauseofwestsyndromesecondarytotubulinopathyduetocongenitalsymmetriccircumferentialskincreasescscsckunzetypeduetoanovelvariantinmapre2gene |