scholarly journals Novel Consensus Splice Site Pathogenic Variation in THOC2 Gene Leads to Recurrent Arthrogryposis Multiplex Congenita Phenotype: A Case Report

Cureus ◽  
2021 ◽  
Author(s):  
Vasundhara Tamhankar ◽  
Parag Tamhankar ◽  
Rajas Chaubal ◽  
Jyoti Chaubal ◽  
Nitin Chaubal
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Arthrogryposis Multiplex Congenita ◽  
Pathogenic Variation ◽  
Consensus Splice Site

scholarly journals A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Evelina Siavrienė ◽  
Gunda Petraitytė ◽  
Violeta Mikštienė ◽  
Tautvydas Rančelis ◽  
Živilė Maldžienė ◽  
...  
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Charge Syndrome ◽  
Acceptor Splice Site

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

Arthrogryposis Multiplex Congenita Associated with Lissencephaly: A Case Report

1988 ◽  
Vol 19 (01) ◽  
pp. 24-26 ◽  
Author(s):  
G. Massa ◽  
P. Casaer ◽  
B. Ceulemans ◽  
S. Van Eldere
Keyword(s):  
Case Report ◽  
Arthrogryposis Multiplex Congenita

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 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

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

scholarly journals A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy – a case report and review of the genotype–phenotype correlation

2017 ◽  
Vol 3 ◽  
pp. 214-220 ◽  
Author(s):  
Agnieszka A. Koppolu ◽  
Agnieszka Madej-Pilarczyk ◽  
Małgorzata Rydzanicz ◽  
Joanna Kosińska ◽  
Piotr Gasperowicz ◽  
...  
Keyword(s):  
Case Report ◽  
Splice Site ◽  
De Novo ◽  
Donor Splice Site ◽  
Phenotype Correlation ◽  
Donor Splice ◽  
Genotype Phenotype Correlation ◽  
Progressive Form

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
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