Frontiers in Pediatrics | Genetics of Common and Rare Diseases

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Editors

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erica e. davis

Stanley Manne Children’s Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago

Chicago, United States

Specialty Chief Editor

Genetic Disorders
jordi pérez-tur

Institute of Biomedicine of Valencia, Spanish National Research Council (CSIC)

Valencia, Spain

Specialty Chief Editor

Genetics of Common and Rare Diseases
andrea accogli

McGill University Health Centre

Montreal, Canada

Associate Editor

Genetics of Common and Rare Diseases
bassam r ali

United Arab Emirates University

Al-Ain, United Arab Emirates

Associate Editor

Genetics of Common and Rare Diseases

Genetics of Common and Rare Diseases

Submit your research

Author guidelines

Editor guidelines

Peer review

Publishing fees

Editors

erica e. davis

jordi pérez-tur

andrea accogli

bassam r ali

Articles

Early Clinical Diagnosis of Congenital Insensitivity to Pain with Anhidrosis in an Infant: A Case Report

Identification of Novel Compound Heterozygous Mutations in the GLB1 Gene by Whole-Exome Sequencing in a Case of Infantile GM1 Gangliosidosis: A Case Report

A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières Syndrome Type 5: a case report and literature review

Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: An eight-year single-center retrospective study

Research Topics

Ocular Syndromic and Isolated Genetic Rare Diseases

Genetic, Epigenetic, and Environmental Determinants of Male Reproductive Function Across the Lifespan

Rare Diseases Research and Diagnosis in Low- and Middle-Income Countries: Volume II

Congenital Urethral Malformations in Children: Contemporary Management Strategies and Advances in Reconstructive Surgery