Journal of Pediatric Genetics

Issue 01 · March 2021

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Review Article
001
Wicher, Dorota; Obrycki, Łukasz; Jankowska, Irena: Autosomal Recessive Polycystic Kidney Disease—The Clinical Aspects and Diagnostic Challenges

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Original Article
009
Inandiklioğlu, Nihal; Yaşar, Adem: Association between rs1421085 and rs9939609 Polymorphisms of Fat Mass and Obesity-Associated Gene with High-Density Lipoprotein Cholesterol and Triglyceride in Obese Turkish Children and Adolescents

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016
Boontan, Naiyana; Rojnueangnit, Kitiwan: Growth Patterns of Thai Children with Down Syndrome from Birth to 5 Years

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Supplementary Material

Supplementary Material
023
Nerakh, Gayatri; Ranganath, Prajnya; Murugan, Sakthivel: Next-Generation Sequencing in a Cohort of Asian Indian Patients with the Duchenne Muscular Dystrophy Phenotype: Diagnostic Yield and Mutation Spectrum

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029
Khaeso, Kanyarat; Nakkam, Nontaya; Komwilaisak, Patcharee; Wongmast, Piyathida; Chainansamit, Su-on; Dornsena, Areerat; Kanjanawart, Sirimas; Vannaprasaht, Suda; Tassaneeyakul, Wichittra: Genetic Polymorphisms of Drug-Metabolizing Enzymes Involved in 6-Mercaptopurine-Induced Myelosuppression in Thai Pediatric Acute Lymphoblastic Leukemia Patients

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Case Report
035
Williams, Jason L.; McDonald, Marie T.; Seifert, Bryce A.; Deak, Kristen L.; Rehder, Catherine W.; Campbell, Michael J.: An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome

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039
Teles-Silva, Cláudia; Martins, Francisca; Costa, Sandra; Soares, Paulo; Rocha, Gustavo; Flor-de-Lima, Filipa; Pinto, Helena; Ramalho, Carla; Oliveira, Renata; Brandão, Otília; Guimarães, Hercília: Renal Dysplasia and Progressive Renal Failure in a Newborn with Interstitial Chromosome 4 Deletion 4q25-28.3: A New Phenotype?

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045
Diniz, Bruna Lixinski; Glaeser, Andressa Barreto; Deconte, Desirée; Guaraná, Bruna Baierle; Rosa, Rafael Fabiano Machado; Zen, Paulo Ricardo Gazzola: Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case

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049
Bruni, Valentina; Scozzafava, Cristina; Gnazzo, Maria; Parisi, Francesca; Sestito, Simona; Pensabene, Licia; Novelli, Antonio; Concolino, Daniela: Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome

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053
Mehta, Sonia D.; Leavitt, Wendy L.; Alex, Gijo; Saynhalath, Rita; Kiss, Edgar: Endotracheal Intubation Using Alfentanil in a Pediatric Patient with a Mitochondrial Myopathy and Gastroparesis

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057
Iezzi, Maria Laura; Varriale, Gaia; Zagaroli, Luca; Lasorella, Stefania; Greco, Marco; Iapadre, Giulia; Verrotti, Alberto: A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature

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063
Deconte, Desirée; Correia, Elisa Pacheco Estima; Haubert, Géssica; de Souza, Vinicius; Correia, Jamile Dutra; Maahs, Marcia Angelica Peter; Zen, Paulo Ricardo Gazzola; Fiegenbaum, Marilu; Rosa, Rafael Fabiano Machado: Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism

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070
Lallar, Meenakshi; Arora, Veronica; Saxena, Renu; Puri, Ratna Dua; Verma, Ishwar Chander: Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss

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074
Elmas, Muhsin; Gogus, Basak; Kılıçarslan, Furkan; Bukulmez, Aysegul; Solak, Mustafa: Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing

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077
Sen, Kuntal; Castillo Pinto, Carlos; Gropman, Andrea L.: Expanding Role of Proton Magnetic Resonance Spectroscopy: Timely Diagnosis and Treatment Initiation in Partial Ornithine Transcarbamylase Deficiency

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081
Marji, Fady P.; Hall, Jennifer A.; Anstadt, Erin; Madan-Khetarpal, Suneeta; Goldstein, Jesse A.; Losee, Joseph E.: A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis

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