DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Ausgabe 02 · Volume 12 · Juni 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Çaksen, Hüseyin: Retracted Article: Importance of Religious Coping in Bereaved Parents after the Death of a Child with Genetic Disorder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Çaksen, Hüseyin: Retracted Article: Parents' Supernatural Beliefs on Causes of Birth Defects: A Review from Islamic Perspective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 Supplementary Material

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
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