DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 02 · Volume 12 · June 2023 DOI: 10.1055/s-013-57321

Editorial

  • 095
    Çaksen, Hüseyin:

    Retracted Article: Importance of Religious Coping in Bereaved Parents after the Death of a Child with Genetic Disorder

    • Review Article

  • 097
    de Azevedo, Brenda Lamônica Rodrigues; Roni, Gabriel Marim; Torrelio, Rosalie Matuk Fuentes; da Gama-de-Souza, Letícia Nogueira:

    Fibrosis as a Risk Factor for Cutaneous Squamous Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa: A Systematic Review

  • 105
    Çaksen, Hüseyin:

    Retracted Article: Parents' Supernatural Beliefs on Causes of Birth Defects: A Review from Islamic Perspective

  • 113
    Diniz, Bruna Lixinski; Deconte, Desirée; Gadelha, Kerolainy Alves; Glaeser, Andressa Barreto; Guaraná, Bruna Baierle; de Moura, Andreza Ávila; Rosa, Rafael Fabiano Machado; Zen, Paulo Ricardo Gazzola:

    Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis

    Supplementary Material (PDF) Supplementary Material (PDF)

    • Original Article

  • 123
    Bhalla, Anil Kumar; Kaur, Harvinder; Kaur, Rupinder; Panigrahi, Inusha; Walia, Brij Nandan Singh:

    Growth Pattern and Use of Inter-pupillary Distance in the Detection of Ocular Hypertelorism and Hypotelorism in Indian Down Syndrome Children

  • 129
    Lakkakula, Bhaskar V. K. S.; Pattnaik, Smaranika:

    The HBG2 rs7482144 (C > T) Polymorphism is Linked to HbF Levels but not to the Severity of Sickle Cell Anemia

  • 135
    Lin, Grace; Wei, Heming; Lai, Angeline H. M.; Tan, Ee-Shien; Lim, Jiin Ying; Cham, Breana; Ling, Simon; Jamuar, Saumya S.; Tan, Ene-Choo:

    Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1

    • Case Report

  • 141
    Goyal, Manisha; Faruq, Mohammed; Gupta, Ashok; Shrivastava, Divya; Shamim, Uzma:

    6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype–Phenotype Correlation

  • 144
    Carvalho, Daniel R.; Speck-Martins, Carlos E.; Martins, Bernardo J. A. F.; Izumi, Ana Paula; La Rocque-Ferreira, Alessandra:

    Variable Presentation and Reduced Penetrance in Autosomal Dominant Acute Necrotizing Encephalopathy Related to RANBP2 Variant

  • 150
    Somarajan, Bindu I.; Gupta, Shikha; Mahalingam, Karthikeyan; Azmira, Kishan; Gupta, Viney:

    Digenic Inheritance in Juvenile Open-Angle Glaucoma

  • 155
    Fonseca, Jacinta; Melo, C.; Ferreira, C.; Sampaio, M.; Sousa, R.; Leão, M.:

    RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report

  • 159
    Nieto-Barcelo, Juan Jose; Gonzalez Montes, Noelia; Gonzalo Alonso, Isabel; Martinez, Francisco; Aparisi, Maria Jose; Martinez-Matilla, Marina; Marco Hernandez, Ana Victoria; Tomás Vila, Miguel:

    Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation

  • 163
    Ranganath, Prajnya; Patil, Mallikarjun:

    Eye of the Tiger: Looking Beyond Neurodegeneration with Brain Iron Accumulation Disorders

    • Case-Based Review

  • 167
    Petrović, Davor; Čulić, Vida; Swinderek-Alsayed, Zofia:

    Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

    Supplementary Material (PDF)
  • 171
    Menon, Dipika; Dentel, John N.; Sanil, Yamuna; Lawrence, David:

    Cardiac Fibroma with Asymptomatic Ventricular Arrhythmia in an Adolescent with Gorlin's Syndrome

  • 175
    Singanamalla, Bhanudeep; Paria, Pradip; Suthar, Renu; Saini, Arushi G.; Attri, Savita V.:

    The Challenge of Severe Acute Malnutrition in Inborn Errors of Metabolism: Does Medical Food Alone Suffice?

  • 179
    Lund, Kelli C.; Scottoline, Brian; Jordan, Brian K.:

    Carnitine-Acylcarnitine Translocase Deficiency Masked by Extreme Prematurity