DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

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Al Balushi, Aaisha; Al Hinai, Mariya; Al Hosni, Alya; Al Amrani, Fatima; Al Maimani, Ashwaq; Al Maki, Nabil; Al Hashmi, Nadia: Distal Arthrogryposis with Impaired Proprioception and Touch: A Novel Variant in PIEZO2 Gene in Omani Patients and a Genotype–Phenotype Review from a Single-Center Experience
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Kannan, Balachander; Navamani, Hepzibah Kirubamani; Jayaseelan, Vijayashree Priyadharsini; Arumugam, Paramasivam: A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype–Phenotype Analysis
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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
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Malhotra, Sonali; Sivasubramanian, Ramya; Srivastava, Gitanjali: Evaluation and Management of Early Onset Genetic Obesity in Childhood
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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