scholarly journals Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family

2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Liena E. O. Elsayed ◽  
Inaam N. Mohammed ◽  
Ahlam A. A. Hamed ◽  
Maha A. Elseed ◽  
Mustafa A. M. Salih ◽  
...  
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Neuroaxonal Dystrophy ◽  
Site Mutation ◽  
Infantile Neuroaxonal Dystrophy

Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review

2018 ◽  
Vol 45 (5) ◽  
pp. 613-617 ◽  
Author(s):  
Yukari Mizukami ◽  
Ryota Hayashi ◽  
Daisuke Tsuruta ◽  
Yutaka Shimomura ◽  
Koji Sugawara
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Woolly Hair

scholarly journals Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report

2020 ◽  
Vol 65 (10) ◽  
pp. 903-909
Author(s):  
Ryouhei Komaki ◽  
Yasumasa Hashimoto ◽  
Madoka Mori-Yoshimura ◽  
Yasushi Oya ◽  
Hotake Takizawa ◽  
...  
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Splice Site ◽  
Cardiac Involvement ◽  
Splice Site Mutation ◽  
Becker Muscular Dystrophy ◽  
Site Mutation ◽  
Dystrophin Expression

scholarly journals Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report

2018 ◽  
Vol 18 (1) ◽  
Author(s):  
Karin E. Lundin ◽  
Qing Wang ◽  
Abdulrahman Hamasy ◽  
Per Marits ◽  
Mehmet Uzunel ◽  
...  
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation

scholarly journals A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report

2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Hossein Esmaeilzadeh ◽  
Mohammad Reza Bordbar ◽  
Hassan Dastsooz ◽  
Mohammad Silawi ◽  
Mohammad Ali Farazi Fard ◽  
...  
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Chronic Colitis ◽  
Site Mutation ◽  
Wiskott Aldrich Syndrome ◽  
Was Gene

Cerebrotendinous Xanthomatosis (CTX): An Association of Pulverulent Cataracts and Pseudo-Dominant Developmental Delay in a Family with a Splice Site Mutation inCYP27A1— A Case Report

2010 ◽  
Vol 31 (2) ◽  
pp. 73-76 ◽  
Author(s):  
Rabia Bourkiza ◽  
Sarah Joyce ◽  
Himanshu Patel ◽  
Michelle Chan ◽  
Esther Meyer ◽  
...  
Keyword(s):  
Case Report ◽  
Developmental Delay ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Cerebrotendinous Xanthomatosis ◽  
Site Mutation

scholarly journals Correction to: Clinical and experimental phenotype of azole-resistant Aspergillus fumigatus with a HapE splice site mutation: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yuya Ito ◽  
Takahiro Takazono ◽  
Satoru Koga ◽  
Yuichiro Nakano ◽  
Nobuyuki Ashizawa ◽  
...  
Keyword(s):  
Case Report ◽  
Aspergillus Fumigatus ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation

scholarly journals Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report

2019 ◽  
Vol 60 (5) ◽  
pp. 458-462
Author(s):  
Petar Šenjug ◽  
Tamara Nikuševa Martić ◽  
Marija Šenjug Perica ◽  
Maja Oroz ◽  
Matija Horaček ◽  
...  
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Alport Syndrome ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Site Mutation

scholarly journals Case Report: A Case of Hailey–Hailey Disease Mimicking Condyloma Acuminatum and a Novel Splice-Site Mutation of ATP2C1 Gene

2021 ◽  
Vol 12 ◽  
Author(s):  
Yuwei Dai ◽  
Lingling Yu ◽  
Yu Wang ◽  
Min Gao ◽  
Peiguang Wang
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Splice Site Mutation ◽  
Condyloma Acuminatum ◽  
Dramatic Improvement ◽  
Brick Wall ◽  
Site Mutation ◽  
Characteristic Appearance

Hailey–Hailey disease (HHD) is a rare autosomal-dominant blistering disorder characterized by recurrent vesicular and erosive lesions at intertriginous sites. We described a 24-year-old male who presented with multiple bright red verrucous papules in his mons pubis, bilateral groins, scrotum, perineum, and crissum, clinically resembling condyloma acuminatum. The histopathology showed extensive acantholysis with the characteristic appearance of a dilapidated brick-wall. The mutation analysis revealed a novel splice-site mutation in the ATP2C1 gene. The patient was definitely diagnosed with HHD. The antibacterial treatments resulted in a dramatic improvement. Our findings help to broaden the understanding of clinical manifestations of HHD and improve the clinical diagnosis and treatment of this disease.

scholarly journals A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature

2016 ◽  
Vol 7 (1) ◽  
pp. 26-31 ◽  
Author(s):  
Linda K. Rey ◽  
Jürgen Kohlhase ◽  
Katrin Möllenhoff ◽  
Gabriele Dekomien ◽  
Jörg T. Epplen ◽  
...  
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Review Of The Literature ◽  
Site Mutation ◽  
Lipoid Proteinosis
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