Search Results - "exome sequencing"

A novel homozygous splice donor variant in the LRPPRC gene causing Leigh syndrome with epilepsy, a French-Canadian disorder in a Saudi family: case report by Osama Y. Muthaffar, Angham Abdulrhman Abdulkareem, Angham Abdulrhman Abdulkareem, Abrar Ashi, Abrar Ashi, Muhammad Imran Naseer, Muhammad Imran Naseer

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Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello Syndrome by Yu-Min Syu, Hung-Chang Lee, Jui-Hsing Chang, Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin

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High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence by Corinne Collet, Jean-Louis Laplanche, Justine Page, Hélène Morel, France Woimant, Aurélia Poujois

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Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease by Isabelle Thiffault, Britton Zuccarelli, Holly Welsh, Xuan Yuan, Emily Farrow, Lee Zellmer, Neil Miller, Sarah Soden, Ahmed Abdelmoity, Robert A. Brodsky, Carol Saunders

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Identification of novel variants and candidate genes in women with 46,XX complete gonadal dysgenesis by Leilei Ding, Shan Deng, Pan Zhang, Duoduo Zhang, Qinjie Tian

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Genomic alterations in oral multiple primary cancers by Xuan Zhou, Xinjia Cai, Fengyang Jing, Xuefen Li, Jianyun Zhang, Heyu Zhang, Tiejun Li

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Weill-Marchesani syndrome: A rare cause of ectopia lentis and short stature by Sapna Sandal, Varshini Shanker, Swasti Pal, Sunita Bijarnia-Mahay

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Novel ITGB6 variants cause hypoplastic-hypomineralized amelogenesis imperfecta and taurodontism: characterization of tooth phenotype and review of literature by Kanokwan Sriwattanapong, Thanakorn Theerapanon, Lawan Boonprakong, Anucharte Srijunbarl, Thantrira Porntaveetus, Vorasuk Shotelersuk

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Fatal COVID-19 in a Child with Persistence of SARS-CoV-2 Despite Extensive Multidisciplinary Treatment: A Case Report by Sofia Apostolidou, Theresa Harbauer, Peter Lasch, Daniel Biermann, Maja Hempel, Marc Lütgehetmann, Susanne Pfefferle, Jochen Herrmann, André Rüffer, Konrad Reinshagen, Rainer Kozlik-Feldmann, Anna Gieras, Inga Kniep, Jun Oh, Dominique Singer, Chinedu Ulrich Ebenebe, Robin Kobbe

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The first case of novel variants of the mutation causing primary amenorrhea in 2 siblings in Korea by Sukdong Yoo, Ju Young Yoon, Changwon Keum, Chong Kun Cheon

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Suspecting neonatal severe primary hyperparathyroidism in late onset neonatal sepsis by Naseer Yousuf Mir, S Aashiq Andrabi, Mohd Ashraf, Umer A Qureshi

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Macrothrombocytopenia with leukocyte inclusions in a patient with Wilson disease: a case report and literature review by Shaoze Lin, Jianling Cai, Yuxuan Huang, Hongxing Chen, Meidie Yu, Dongqing Zhang, Zhanqin Huang

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Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys by D. Hettiarachchi, S. M. V. Subasinghe, G. G. Anandagoda, Hetalkumar Panchal, P. S. Lai, V. H. W. Dissanayake

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Neonatal onset Aicardi-Goutières syndrome with congenital corneal edema, expanding the phenotype by Romit Jain, Siva Narayana Reddy, Sai Sankeerth Rao Koneru, Ramesh Konanki

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Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB by Zobaida Alsum, Mofareh S. AlZahrani, Hamoud Al-Mousa, Nouf Alkhamis, Abdulkareem A. Alsalemi, Hanan E. Shamseldin, Fowzan S. Alkuraya, Fowzan S. Alkuraya, Fowzan S. Alkuraya, Abdullah A. Alangari

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Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome by Ester Capecchi, Roberta Villa, Alessandro Pini, Maria Iascone, Laura Messina, Paola Francesca Ajmone, Fabio Mosca, Silvana Gangi, Maria Francesca Bedeschi

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Phenotype-Driven Virtual Panel Is an Effective Method to Analyze WES Data of Neurological Disease by Xu Wang, Xiang Shen, Fang Fang, Chang-Hong Ding, Hao Zhang, Zhen-Hua Cao, Dong-Yan An

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Acanthosis nigricans in a Chinese girl with FGFR3 K650 T mutation: a case report and literature review by Junling Fu, Yiting Zhao, Tong Wang, Qian Zhang, Xinhua Xiao

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EIF2B2 gene mutation causing early onset vanishing white matter disease: a case report by Ilaria Filareto, Giulia Cinelli, Ilaria Scalabrini, Elisa Caramaschi, Patrizia Bergonzini, Elisabetta Spezia, Alessandra Todeschini, Lorenzo Iughetti

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Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts by Xiaohui He, Shaozhi Zhao, Lin Shi, Yitong Lu, Yintong Yang, Xinwen Zhang

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