DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 03 · Volume 07 · September 2018 DOI: 10.1055/s-008-41068

Erratum

  • e1
    Camacho-Cruz, Jhon; Gutierrez, Luz Dary; Rubio, Cladelis; Suárez, Alfonso; Amaya, Angie:

    Erratum: Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family

    • Original Article

  • 097
    Radha Rama Devi, Akella; Lingappa, Lokesh; Naushad, Shaik Mohammad:

    Identification of Two Novel Mutations in Aminomethyltransferase Gene in Cases of Glycine Encephalopathy

    Supplementary Material (PDF)
  • 103
    Bisht, Shilpa; Chawla, Bhavna; Dada, Rima:

    Oxidative Stress and Polymorphism in MTHFR SNPs (677 and 1298) in Paternal Sperm DNA is Associated with an Increased Risk of Retinoblastoma in Their Children: A Case–Control Study

    • Rapid Communication

  • 114
    Efthymiou, Stephanie; Salpietro, Vincenzo; Bettencourt, Conceicao; Houlden, Henry:

    Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A

    Video available

    • Case Report

  • 117
    Barış, Zeren; Özçay, Figen; Olcay, Lale; Ceylaner, Serdar; Sezer, Taner:

    A Case of Shwachman–Diamond Syndrome who Presented with Hypotonia

  • 122
    Camacho-Cruz, Jhon; Gutierrez, Luz Dary; Rubio, Cladelis; Suárez, Alfonso; Amaya, Angie:

    Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family

  • 125
    Kumar, Vivek; Roy, Shuvendu; Kumar, Gaurav:

    An Interesting and Unique Case of 8p23.3p23.1 Deletion and 8p23.1p11.1 Interstitial Duplication Syndrome

  • 130
    Shukla, Anju; Kaur, Parneet; Girisha, Katta M.:

    Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1

    Supplementary Tables (PDF)
  • 134
    Costain, Gregory; Inbar-Feigenberg, Michal; Saleh, Maha; Yaniv-Salem, Shimrit; Ryan, Greg; Morgen, Eric; Goh, Elaine S.; Nishimura, Gen; Chitayat, David:

    Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease)

    Supplementary Figures (PDF)
  • 138
    Kylat, Ranjit I.:

    22q11.2 Microduplication: An Enigmatic Genetic Disorder