scholarly journals A Sporadic Case of Mal de Meleda Caused by Gene Mutation in SLURP-1 in Korea

2011 ◽  
Vol 23 (3) ◽  
pp. 396 ◽  
Author(s):  
Young Jae Oh ◽  
Ha Eun Lee ◽  
Joo Yeon Ko ◽  
Young Suck Ro ◽  
Hee Joon Yu
Keyword(s):  
Gene Mutation ◽  
Sporadic Case ◽  
Mal De Meleda

scholarly journals An Apparently Sporadic Case With Parkin Gene Mutation in a Korean Woman

2001 ◽  
Vol 58 (6) ◽  
pp. 988 ◽  
Author(s):  
Beom S. Jeon ◽  
Jong-Min Kim ◽  
Dong-Soo Lee ◽  
Nobutaka Hattori ◽  
Yoshikuni Mizuno
Keyword(s):  
Gene Mutation ◽  
Sporadic Case ◽  
Korean Woman ◽  
Parkin Gene

A sporadic case of Nagashima-type palmoplantar keratosis caused by gene mutation in SERPINB7

2016 ◽  
Vol 41 (7) ◽  
pp. 811-813 ◽  
Author(s):  
C.-X. Li ◽  
S-Q. Zhang ◽  
J. Wen ◽  
P.-J. Chen ◽  
Q.-.X. Liu ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Sporadic Case ◽  
Palmoplantar Keratosis

scholarly journals Patient with Mal de Meleda in whom a Novel Gene Mutation was Identified

2019 ◽  
Vol 51 (2) ◽  
pp. 205-207
Author(s):  
Gulhan Gurel ◽  
◽  
Oguz Cilingir ◽  
Ozden Kutluay ◽  
Serap Arslan ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Novel Gene ◽  
Mal De Meleda

scholarly journals Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel EFNB1 Gene Mutation

2021 ◽  
pp. 1-10
Author(s):  
Semra Gürsoy ◽  
Filiz Hazan ◽  
Tülay Öztürk ◽  
Rüya Çolak ◽  
Şebnem Çalkavur
Keyword(s):  
Gene Mutation ◽  
Genetic Disorder ◽  
Sporadic Case ◽  
Peripheral Blood Lymphocytes ◽  
Clinical Spectrum ◽  
Facial Features ◽  
Phenotype Correlation ◽  
Familial Cases ◽  
Sporadic Cases ◽  
Coronal Synostosis

Craniofrontonasal syndrome (CFNS) is a rare X-linked genetic disorder which is characterized by coronal synostosis, widely spaced eyes, a central nasal groove, and various skeletal anomalies. Mutations in the <i>EFNB1</i> gene in Xq13.1 are responsible for familial and sporadic cases. In the present study, we aimed to evaluate the clinical characteristics and molecular results of 4 patients with CFNS. Genomic DNA was extracted from the peripheral blood lymphocytes of all patients and their parents, and Sanger sequencing of the <i>EFNB1</i> gene was performed. A novel <i>EFNB1</i> gene mutation (c.65delG; p.Cys22SerfsTer24) was detected in a newborn who had only dysmorphic facial features and bicornuate uterus. The other 3 patients (2 familial cases and 1 sporadic case) shared the same mutation (c.196C&#x3e;T; p.R66X). However, the clinical features of these patients were highly variable. Additionally, central (meso-axial) polydactyly and deep palmar creases were detected, which have not been previously reported. CFNS has a wide clinical spectrum, but there is no clear genotype-phenotype correlation. However, central (meso-axial) polydactyly and deep palmar creases may be part of the clinical spectrum seen in CFNS. In addition, our findings expand the mutational spectrum in patients with CFNS.

scholarly journals Sporadic Case of CHARGE Syndrome With Chromodomain-Helicase-DNA-Binding Protein 7 (CDH7) Gene Mutation

Cureus ◽  
2020 ◽  
Author(s):  
Batool Wael Alnahar ◽  
Ahmed M Alsheikh ◽  
Amani G Alruhaimi ◽  
Ibtesam A Abdulghani
Keyword(s):  
Dna Binding ◽  
Gene Mutation ◽  
Binding Protein ◽  
Sporadic Case ◽  
Charge Syndrome ◽  
Dna Binding Protein

A novel SGCE gene mutation in a Moroccan sporadic case with myoclonus-dystonia syndrome

Gene Reports ◽  
2018 ◽  
Vol 11 ◽  
pp. 121-123
Author(s):  
Laila Rachad ◽  
Hicham El Otmani ◽  
Adnane Karkar ◽  
Nadia El Kadmiri ◽  
Sellama Nadifi
Keyword(s):  
Gene Mutation ◽  
Sporadic Case ◽  
Myoclonus Dystonia

A sporadic case of porokeratosis plantaris palmaris et disseminata

1998 ◽  
Vol 138 (3) ◽  
pp. 556-557 ◽  
Author(s):  
Lucke ◽  
Fallowfield ◽  
Kemmett
Keyword(s):  
Sporadic Case ◽  
Palmaris Et Disseminata
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