scholarly journals 22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral Spectrum

2020 ◽  
Vol 11 (3) ◽  
pp. 146-152
Author(s):  
Anikó Ujfalusi ◽  
Orsolya Nagy ◽  
Beáta Bessenyei ◽  
Györgyi Lente ◽  
Irén Kántor ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Mild Clinical Phenotype

Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype

2016 ◽  
Vol 55 (1) ◽  
pp. 46-50 ◽  
Author(s):  
Roser Pons ◽  
Kyriaki Kekou ◽  
Artemis Gkika ◽  
George Papadimas ◽  
Nikolaos Vogiatzakis ◽  
...  
Keyword(s):  
Amino Acid ◽  
Clinical Phenotype ◽  
Single Amino Acid ◽  
Dystrophin Protein ◽  
Mild Clinical Phenotype

Missense mutations inN-acetylglucosamine-1-phosphotransferase α/β subunit gene in a patient with mucolipidosis III and a mild clinical phenotype

2005 ◽  
Vol 137A (3) ◽  
pp. 235-240 ◽  
Author(s):  
Stephan Tiede ◽  
Nicole Muschol ◽  
Gert Reutter ◽  
Michael Cantz ◽  
Kurt Ullrich ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Missense Mutations ◽  
Β Subunit ◽  
Subunit Gene ◽  
Mild Clinical Phenotype

Deletion of chromosomal region Xq28 cause of Hunter syndrome in a patient with mild clinical phenotype

2019 ◽  
Vol 126 (2) ◽  
pp. S156
Author(s):  
Natalia V. Zhurkova ◽  
Kirill Victorovich Savostyanov ◽  
Alexandr Andreevich Pushkov ◽  
Tatiana Vladimirovna Podkletnova ◽  
Nato Dzhumberovna Vashakmadze ◽  
...  
Keyword(s):  
Chromosomal Region ◽  
Clinical Phenotype ◽  
Hunter Syndrome ◽  
Mild Clinical Phenotype

Presence of a mild clinical phenotype in a kindred with familial WPW

Heart Rhythm ◽  
2005 ◽  
Vol 2 (5) ◽  
pp. S311
Author(s):  
Kathryn A. Glatter ◽  
Nipavan Chiamvimonvat ◽  
Dipika Tuteja ◽  
Anil Singapuri
Keyword(s):  
Clinical Phenotype ◽  
Mild Clinical Phenotype

scholarly journals Genetic and Clinical Phenotypic Analysis of Familial Stapes Sclerosis Caused by a NOG Mutation

2020 ◽  
Author(s):  
Rong Yu ◽  
HONGQUN JIANG ◽  
WU GEN LUO
Keyword(s):  
Autosomal Dominant ◽  
Clinical Phenotype ◽  
Skeletal Development ◽  
Sequencing Analysis ◽  
Phenotypic Analysis ◽  
Her Family ◽  
Morphogenetic Protein ◽  
Generation Sequencing ◽  
Normal Controls ◽  
Mild Clinical Phenotype

Abstract Background：Noggin protein encoded by NOG gene can interfere with the binding of bone morphogenetic protein to its receptor, thus affecting bone and joint develop pment. The symptoms include abnormal skeletal development and conductive deaf ness Methods: In a Retrospective study, clinical data of the proband and her family members include 8 people and 50 healthy normal controls were collected. Secon d-generation sequencing were performed on peripheral blood samples from them. Results：The sequencing analysis indicated that, in the probrand, the NOG gene included c.532T>C (cytosine deletion), leading to an amino acid change. The prob and's father, grandmother, second sister, and third sister also had this mutation, whereas those with normal phenotypes did not have the mutation. Conclusion：Analysis of this family showed that the new presentation of c.532T>C mutation in the NOG gene resulted in syndrome-type autosomal dominant inheritan ce reflected in a mild clinical phenotype, which is of great significance for further studies of the clinical phenotype and pathogenesis of stapetectopia.

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