scholarly journals An ATP2A2 Missense Mutation in a Japanese Family with Darier Disease: A Case Report and Review of the Japanese Darier Disease Patients with ATP2A2 Mutations

2017 ◽  
Vol 84 (5) ◽  
pp. 246-250 ◽  
Author(s):  
Min Li ◽  
Naoyuki Higashi ◽  
Hajime Nakano ◽  
Hidehisa Saeki
Keyword(s):  
Case Report ◽  
Missense Mutation ◽  
Japanese Family ◽  
Darier Disease

scholarly journals A Novel Missense Mutation of the CSF1R Gene Causes Incurable CSF1R-Related Leukoencephalopathy: Case Report and Review of Literature

2020 ◽  
Vol Volume 13 ◽  
pp. 1613-1620
Author(s):  
Jie Chen ◽  
Shiying Luo ◽  
Ning Li ◽  
Huimin Li ◽  
Jinming Han ◽  
...  
Keyword(s):  
Case Report ◽  
Missense Mutation ◽  
Review Of Literature

Successful treatment of refractory Darier disease with alitretinoin with a follow up of over a year: a case report

2016 ◽  
Vol 29 (4) ◽  
pp. 222-223 ◽  
Author(s):  
Rony Shreberk-Hassidim ◽  
Sivan Sheffer ◽  
Liran Horev ◽  
Abraham Zlotogorski ◽  
Yuval Ramot
Keyword(s):  
Case Report ◽  
Successful Treatment ◽  
Darier Disease

Clinical response to ustekinumab in CARD14 ‐associated papulosquamous eruption (CAPE) with a new missense mutation in CARD14 : a case report and systematic review

2020 ◽  
Vol 34 (11) ◽  
Author(s):  
L.M. Nieto‐Benito ◽  
O. Baniandrés‐Rodríguez ◽  
A. Moreno‐Torres ◽  
A. Hernández‐Martín ◽  
A. Torrelo‐Fernández ◽  
...  
Keyword(s):  
Systematic Review ◽  
Case Report ◽  
Clinical Response ◽  
Missense Mutation

Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: A case report

2006 ◽  
Vol 95 (12) ◽  
pp. 1703-1706 ◽  
Author(s):  
Evangelia Stefanaki ◽  
Vasiliki Aggelakou ◽  
M. Orfanou ◽  
E. Kokori ◽  
S. Boutoufianakis
Keyword(s):  
Case Report ◽  
Sodium Channel ◽  
Missense Mutation ◽  
De Novo ◽  
Subunit A

Missense mutation of EDA1 gene in Japanese family with X-linked anhidrotic ectodermal dysplasia

2012 ◽  
Vol 22 (2) ◽  
pp. 188-192
Author(s):  
Hiroshi Sekiguchi ◽  
Sachie Senzui ◽  
Haruto Yamashita ◽  
Seikou Shintani ◽  
Takashi Sawada ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Ectodermal Dysplasia ◽  
Japanese Family ◽  
Anhidrotic Ectodermal Dysplasia
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