DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 04 · Volume 11 · December 2022 DOI: 10.1055/s-012-55471

Original Article

  • 261
    Kaur, Harvinder; Bhalla, Anil Kumar; Panigrahi, Inusha:

    Percentile Charts for Body Mass Index of Indian Down Syndrome Children

  • 267
    Bhat, Maya Dattatraya; Manjunath, Netravathi; Kumari, Renu; Faruq, Mohammed; Pal, Pramod Kumar; Prasad, Chandrajit; Mundlamuri, Ravindranadh Chowdary; Nalini, Atchayaram; Udupi, Gautham Arunachal; Baishya, Priyanka Priyadarshini; Kulanthaivelu, Karthik:

    Cribriform Appearance of White Matter in Canavan Disease Associated with Novel Mutations of ASPA Gene

  • 272
    Nascimento, Cristian Rodrigues do; Basílio, Dyowani dos Santos; Lopes, Johnnatas Mikael; Cansanção, Isaac Farias:

    Analyzing Inbreeding and Estimating Its Related Deficiencies in Northeastern Brazil

    Supplementary Material (PDF)
  • 279
    Panigrahi, Inusha; Kaur, Parminder; Chaudhry, Chakshu; Shariq, Mohd; Naorem, Devika D.; Gowtham, B.C.; Kaur, Anupriya; Dayal, Devi:

    Short Stature Syndromes: Case Series from India

  • 287
    Murakami, Kohei; Kikugawa, Shingo; Seki, Shoji; Terai, Hidetomi; Suzuki, Takako; Nakano, Masaki; Takahashi, Jun; Nakamura, Yukio:

    Exome Sequencing Reveals De Novo Variants in Congenital Scoliosis

  • 292
    Heathfield, Laura Jane; Watkins, Hugh; Martin, Lorna Jean; Ramesar, Raj:

    Massively Parallel Sequencing of 43 Arrhythmia Genes in a Selected SUDI Cohort from Cape Town

    Supplementary Material (PDF)

    • Case Report

  • 298
    Arora, Veronica; Pal, Swasti; Kulshreshtha, Samarth; Verma, Ishwar C.:

    A Further Case of Larsen's Syndrome: Clinical and Genotypic Challenges in Diagnosis

  • 304
    Aspit, Liam; Arwas, Noga; Krymko, Hanna; Etzion, Yoram; Parvari, Ruti; Levitas, Aviva:

    Duchenne Muscular Dystrophy and Early Onset Hypertrophic Cardiomyopathy associated with Mutations in Dystrophin and Hypertrophic Cardiomyopathy-Associated Genes

    Supplementary Material (PDF)
  • 309
    Udrea, Daniel S.; Lopez, Merrick; Avesar, Michael; Qureshi, Sonea; Moretti, Anthony; Abd-Allah, Shamel A.; Chandnani, Harsha K.:

    Acute COVID-19 Infection in a Pediatric Patient with ROHHAD

  • 313
    Matsushita, Yuki; Nagata, Hazumu; Ogawa, Masanobu; Shikada, Sawako; Ishikawa, Taisuke; Makita, Naomasa:

    A Case Report: Two Young Children with Long QT Syndrome Type-2 Diagnosed by Presymptomatic Genetic Testing

  • 317
    Akduman, Hasan; Dilli, Dilek; Ceylaner, Serdar:

    A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

  • 320
    Alhashem, Amal; Alazmeh, Saria; Barakat, Ayla; Alfares, Ahmed; Elghezal, Hatem:

    De Novo Ring Chromosome 15: Molecular Cytogenetic and Clinical Characterization of First Case from Saudi Arabia

  • 324
    Nguyen, Hoang H.; Umapathi, Krishna Kishore; Bokowski, John W.; Hogan, Kelsey; Hart, Alexa; Li, Mindy H.:

    Mosaic Trisomy 16 Associated with Left Lung Agenesis, Abnormal Left Arm, and Right Pulmonary Artery Stenosis: Expanding the Phenotype and Review of the Literature