Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa by Bo Gong, Bo Wei, Lulin Huang, Jilong Hao, Xiulan Li, Yin Yang, Yu Zhou, Fang Hao, Zhihua Cui, Dingding Zhang, Le Wang, Houbin Zhang

“…This homozygous mutation was detected in the two affected patients, but not present in other family members and 600 normal controls. …”
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Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study by Tamaki Kato, Mamoru Yokomura, Yutaka Osawa, Kensuke Matsuo, Yuji Kubo, Taihei Homma, Kayoko Saito

“…Furthermore, for 1 patient with a homozygous SMN1 missense mutation, SMA was not suspected by the current copy number screening method. …”
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Molecular Patterns of MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever: A Retrospective Cohort Study by Amal R. Mansour, Ayman El-Shayeb, Nihal El Habachi, Mohamad A. Khodair, Doaa Elwazzan, Nermeen Abdeen, Marwa Said, Riham Ebaid, Noha ElShahawy, Amr Seif, Nadia Zaki

“…Among the 1387 patients presenting with signs and symptoms suggestive of FMF, 793 (57.2%) were of undefined mutations, whereas 594 had MEFV gene mutations. 363 patients (26.2%) were heterozygous mutants, 175 patients (12.6%) were compound heterozygous mutants, and 56 patients (4%) were homozygous mutants. The most commonly encountered gene mutations in heterozygous and homozygous groups were E148Q (38.6%), M694I (18.1%), and V726A (15.8%). …”
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Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant by Lubica Dudakova, Pavlina Skalicka, Olga Ulmanová, Martin Hlozanek, Viktor Stranecky, Frantisek Malinka, Andrea L. Vincent, Petra Liskova

“…A known pathogenic founder CTDP1 variant c.863+389C>T in a homozygous state was identified in the other family member confirming the suspected diagnosis of congenital cataracts, facial dysmorphism, and demyelinating neuropathy syndrome. …”
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Alopecia as the first manifestation of azathioprine myelosuppression in a genetically predisposed patient by Debashish Mishra, Shefali Khanna Sharma, Aman Sharma, Sanjay Jain, Varun Dhir

“…On genetic analysis, she was found to be homozygous for mutation in NUDT15 (C415T) but was negative for mutation in TPMT. …”
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Sjogren–Larsson Syndrome: A Familial Disease Afflicting Three Siblings Born of a Nonconsanguinous Marriage by Aparna Thirumalaiswamy, Saloni Abhijit Desai, Atul Madhusudan Dongre, Chitra Shivanand Nayak

“…Genetic examination confirmed a homozygous mutation of the ALDH3A2 gene, leading to the diagnosis of SLS. …”
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Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature by Amal Al-Naimi, Haneen Toma, Sara G. Hamad, Tawfeg Ben Omran

“…The diagnosis was later confirmed genetically by the presence of a homozygous pathogenic variant (p.Gly213Glu; c.638G > A in exon 8) in the ASAH1 gene. …”
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Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome by Kyriaki Papadopoulou-Legbelou, Maria Ntoumpara, Maria Kavga, Eleni P. Kotanidou, Ioannis Papoulidis, Assimina Galli-Tsinopoulou, Maria Fotoulaki

“…The disease has been described in detail in the Canadian Hutterite population, but a few sporadic cases with de novo mutations have been published worldwide. We describe a homozygous pathogenic variant in the DNAJC19 gene, diagnosed in Northern Greece, presenting with genital anomalies, growth failure, cardiomyopathy, and ataxia, but without increased urinary 3-methylglutaconic acid and additional presence of vitamin D disorders, hypercalciuria, and osteopenia. …”
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Generation of an isogenic series of genome-edited hiPSC lines with the BAG3P209L-mutation for modeling myofibrillar myopathy 6 by Isabelle Riße, Kerstin Filippi, Martin Wiemann, Bernd K. Fleischmann, Michael Hesse

“…We generated an isogenic series of heterozygous and homozygous genome-edited human induced pluripotent stem cell (hiPSC) lines with the BAG3P209L-mutation and its control. …”
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A Case Report of Pulmonary Exacerbation after Initiation of Lumacaftor/Ivacaftor Therapy in a CF Female with Complicated Lung Disease by Elpis Hatziagorou, Eleana Kouroukli, Vasiliki Georgopoulou, John Tsanakas

“…In this report we document the case of a homozygous F508del CF patient with severe lung disease who presented with a pulmonary exacerbation shortly after the beginning of treatment with lumacaftor/ivacaftor and the complicated initial phase of therapy, which was followed by significant improvements.…”
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EF Bart’s Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia by Kane M. Laks, Cara Hirner, Barbara Gruner, Jared Coberly, Katsiaryna Laziuk, Bindu Kanathezhath Sathi

“…EF Bart’s disease is a rare form of nontransfusion-dependant thalassemia (NTDT) due to the coinheritance of homozygous hemoglobin E (βE/βE) genotype with hemoglobin H disease. …”
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Phenotypic effects of the dwarfing gene Rht-17 in spring durum wheat under two climatic conditions by A. G. Chernook, P. Yu. Kroupin, L. A. Bespalova, V. V. Panchenko, V. Ya. Kovtunenko, M. S. Bazhenov, L. A. Nazarova, G. I. Karlov, A. Yu. Kroupina, M. G. Divashuk

“…In our experiments, plants homozygous for Rht-B1p were shorter than those homozygous for the wild-type allele Rht-B1a by 36.3 cm (40 %) in Moscow and 49.5 cm (48 %) in Krasnodar. …”
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Familial Mediterranean Fever: Diagnosing as Early as 3 Months of Age by Gonca Keskindemirci, Nuray Aktay Ayaz, Esin Aldemir, Çiğdem Aydoğmuş, Gönül Aydoğan, Sultan Kavuncuoğlu

“…Mutation analysis was performed and two homozygous mutations (M694V and R202Q) were identified. …”
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Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome by Kuanshu Li, Liu Yang, Ying Liu, Ding Lin

“…Through the ophthalmologic examinations, 8 subjects were diagnosed as ARS and 1 subject was normal. A homozygous mutation c.1139_1141dupGCG(p.Gly380_Ala381insGly) and a heterozygous mutation c.1359_1361dupCGG(p.Gly456_Gln457insGly) in FOXC1 were identified in all subjects. …”
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A Report on a Family with TMTC3-Related Syndrome and Review by Sayeeda Hana, Deepak karthik, Jingxuan Shan, Stephany El Hayek, Lotfi Chouchane, André Megarbane

“…Whole exome sequencing revealed a homozygous pathogenic variant c.211 C > T (p.R71C) in the TMTC3 gene in both siblings. …”
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Not All Neonatal Encephalopathies Are due to Perinatal Hypoxia by Tushar Kulkarni, Lma Dsougi Hussein Mohamed, Mahmoud El Halik, Fatma Abdulla Mohammad Bastaki

“…This was supported by the result of whole exome sequence that identified a novel homozygous mutation, c.1191 + 11A>C, for DARS2 gene confirming the diagnosis.…”
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Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans by Mariam S. Al Harbi, Ayman W. El-Hattab

“…Protein C level was less than 10% and PROC gene sequencing identified a novel homozygous missense mutation, c.1198G>A (p.Gly400Ser). …”
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Late Onset Atypical Pantothenate-Kinase-Associated Neurodegeneration by Natalie Diaz

“…Genetic testing confirmed a homozygous missense mutation consistent with the diagnosis of PKAN. …”
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Evaluation of Transforming Growth Factor Beta-1 Gene 869T/C Polymorphism with Hypertension: A Meta-Analysis by Wenquan Niu

“…Overall, comparison of allele 869C with 869T generated a significant 30% increased hypertension risk (95% confidence interval [95% CI]: 1.11–1.51; P=0.001), which was strengthened for homozygous comparison (869CC versus 869TT) with odds ratio (OR) doubled to 1.62 (95% CI: 1.23–2.14; P=0.001). …”
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Comparative peculiarities of genomic diversity in <i>Gallus gallus domesticus</i> chickens with decorative plumage: the muffs and beard phenotype by N. V. Dementieva, Y. S. Shcherbakov, A. E. Ryabova, A. B. Vakhrameev, A. V. Makarova, O. A. Nikolaeva, A. P. Dysin, A. I. Azovtseva, N. R. Reinbah, O. V. Mitrofanova

“…The Russian White had the greatest number of short (1–2 Mb) homozygous regions. If the HOXB8 gene is located between 3.402 and 3.404 Mb on chromosome GGA27, homozygous regions are rarely found in the chickens with the muffs and beard phenotype. …”
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