A Very Rare Congenital Dyserythropoietic Anemia Variant—Type IV in a Patient With a Novel Mutation in the KLF1 Gene: A Case Report and Review of the Literature

2020 ◽  
Vol 42 (6) ◽  
pp. e536-e540 ◽  
Author(s):  
Tugba Belgemen-Ozer ◽  
Orhan Gorukmez
Keyword(s):  
Case Report ◽  
Novel Mutation ◽  
Review Of The Literature ◽  
Congenital Dyserythropoietic Anemia ◽  
Variant Type ◽  
Type Iv ◽  
Klf1 Gene

Type IV Hypersensitivity to Gold Weight Upper-Eyelid Implant: Case Report and Review of the Literature

2017 ◽  
Vol 26 (6) ◽  
pp. 910-914 ◽  
Author(s):  
Caroline L. S. Kilduff ◽  
Edward J. Casswell ◽  
Richard Imonikhe ◽  
Branka Marjanovic
Keyword(s):  
Case Report ◽  
Review Of The Literature ◽  
Upper Eyelid ◽  
Type Iv ◽  
Gold Weight

Congenital form of glycogen storage disease type IV: A case report and a review of the literature

2004 ◽  
Vol 46 (4) ◽  
pp. 474-477 ◽  
Author(s):  
Keinchi Maruyama ◽  
Tomoko Suzuki ◽  
Takenobu Koizumi ◽  
Hideo Sugie ◽  
Tokiko Fukuda ◽  
...  
Keyword(s):  
Case Report ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Review Of The Literature ◽  
Congenital Form ◽  
Type Iv

scholarly journals Vocal cord paralysis in Charcot–Marie–Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature

2017 ◽  
Vol 27 (5) ◽  
pp. 487-491 ◽  
Author(s):  
Alberto Andrea Zambon ◽  
Maria Grazia Natali Sora ◽  
Giovanna Cantarella ◽  
Federica Cerri ◽  
Angelo Quattrini ◽  
...  
Keyword(s):  
Case Report ◽  
Vocal Cord ◽  
Vocal Cord Paralysis ◽  
Novel Mutation ◽  
Related Protein ◽  
Review Of The Literature ◽  
Charcot Marie Tooth ◽  
Tooth Type
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