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
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

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
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