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Journal of Pediatric Genetics


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



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




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




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




320