DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Ausgabe 02 · Volume 12 · Juni 2023 DOI: 10.1055/s-013-57321

Editorial

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
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

Original Article

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
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

Case-Based Review

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?