Frontiers in Pediatrics | Genetics of Common and Rare Diseases

Original Research

Published on 21 Jul 2023

Clinical and genetic characteristics of 36 children with Joubert syndrome

in Genetics of Common and Rare Diseases

Yan Dong
Ke Zhang
He Yao
Tianming Jia
Jun Wang
Dengna Zhu
Falin Xu
Meiying Cheng
Shichao Zhao
Xiaoyi Shi

Frontiers in Pediatrics

doi 10.3389/fped.2023.1102639

4,753 views
5 citations

Case Report

Published on 17 Jul 2023

Severe congenital neutropenia due to jagunal homolog 1 (JAGN1) mutation: a case report and literature review

in Genetics of Common and Rare Diseases

Sanya Thomas
Geoffrey Guenther
Jared H. Rowe
Craig D. Platt
Akiko Shimamura
Ofer Levy
Lakshmi Ganapathi

Frontiers in Pediatrics

doi 10.3389/fped.2023.1223191

2,349 views
2 citations

Original Research

Published on 12 Jul 2023

Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis

in Genetics of Common and Rare Diseases

Feda E. Mohamed
Mohammad A. Ghattas
Taleb M. Almansoori
Mohammed Tabouni
Ibrahim Baydoun
Praseetha Kizhakkedath
Anne John
Hiba Alblooshi
Qudsia Shaukat
Fatma Al-Jasmi

Frontiers in Pediatrics

doi 10.3389/fped.2023.1183574

4,658 views
3 citations

Original Research

Published on 06 Jul 2023

Outcomes after HSCT for mucolipidosis II (I-cell disease) caused by novel compound heterozygous GNPTAB mutations

in Genetics of Common and Rare Diseases

Si-jia He
Dong-jun Li
Wen-qiong Lv
Wen-hao Tang
Shu-wen Sun
Yi-ping Zhu
Ying Liu
Jin Wu
Xiao-xi Lu

Frontiers in Pediatrics

doi 10.3389/fped.2023.1199489

3,568 views
2 citations

Original Research

Published on 05 Jul 2023

Identification of five novel variants of ADAR1 in dyschromatosis symmetrica hereditaria by next-generation sequencing

in Genetics of Common and Rare Diseases

Qian Ma
Lingyi Che
Yibing Chen
Zhuoyu Gu

Frontiers in Pediatrics

doi 10.3389/fped.2023.1161502

2,839 views
2 citations

Review

Published on 27 Jun 2023

Candidate genes for obstructive sleep apnea in non-syndromic children with craniofacial dysmorphisms – a narrative review

in Genetics of Common and Rare Diseases

Zuzana Marincak Vrankova
Jan Krivanek
Zdenek Danek
Jiri Zelinka
Alena Brysova
Lydie Izakovicova Holla
James K. Hartsfield
Petra Borilova Linhartova

Frontiers in Pediatrics

doi 10.3389/fped.2023.1117493

4,534 views
3 citations

Case Report

Published on 27 Jun 2023

Clinical manifestations in a Chinese girl with heterozygous de novo NAA10 variant c. 247C > T, p. (Arg83Cys): a case report

in Genetics of Common and Rare Diseases

Kaiyan Wei
Chaochun Zou

Frontiers in Pediatrics

doi 10.3389/fped.2023.1198906

2,003 views
2 citations

Review

Published on 26 Jun 2023

Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective

in Genetics of Common and Rare Diseases

Nur Arslan
Mahmut Coker
Gulden Fatma Gokcay
Ertugrul Kiykim
Halise Neslihan Onenli Mungan
Fatih Ezgu

Frontiers in Pediatrics

doi 10.3389/fped.2023.1113422

3,452 views
2 citations

Original Research

Published on 19 Jun 2023

Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene

in Genetics of Common and Rare Diseases

Yuqing Xu
Linyan Zhu
Yeqing Qian
Minyue Dong

Frontiers in Pediatrics

doi 10.3389/fped.2023.1191068

2,297 views
2 citations

Original Research

Published on 13 Jun 2023

Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study

in Genetics of Common and Rare Diseases

Vega-Hanna Lourdes
Sanz-Cuesta Mario
Casas-Alba Didac
Bolasell Mercè
Martorell Loreto
Pías Leticia
Feller Ana Lucia
Antonio Federico Martínez-Monseny
Serrano Mercedes

Frontiers in Pediatrics

doi 10.3389/fped.2023.1184529

5,716 views
3 citations

Case Report

Published on 07 Jun 2023

Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome

in Genetics of Common and Rare Diseases

Qi Yang
Di Gong
Shang Yi
Jingsi Luo
Qinle Zhang

Frontiers in Pediatrics

doi 10.3389/fped.2023.1064783

3,120 views
3 citations

Original Research

Published on 30 May 2023

Association of IL-4 and IL-18 genetic polymorphisms with atopic dermatitis in Chinese children

in Genetics of Common and Rare Diseases

Jianrong Shi
Lin He
Huiwen Zheng
Wei Li
Shuangshuang Huang
Yunling Li
Ran Tao

Frontiers in Pediatrics

doi 10.3389/fped.2023.1202100

2,210 views
1 citation

Case Report

Published on 25 May 2023

A novel pathogenic variant of DNMT3A associated with craniosynostosis: a case report of Heyn–Sproul–Jackson syndrome

in Genetics of Common and Rare Diseases

Ga Hye Kim
Jaewon Kim
Jaewoong Lee
Dae-Hyun Jang

Frontiers in Pediatrics

doi 10.3389/fped.2023.1165638

3,192 views
4 citations

Original Research

Published on 25 May 2023

Association between air pollutants and birth defects in Xiamen, China

in Genetics of Common and Rare Diseases

Zhimeng Huang
Yue Qiu
Jiawen Qi
Xiaohui Ma
Qiliang Cheng
Jinzhun Wu

Frontiers in Pediatrics

doi 10.3389/fped.2023.1132885

4,562 views
6 citations

Review

Published on 22 May 2023

A quest for genetic causes underlying signaling pathways associated with neural tube defects

in Genetics of Common and Rare Diseases

Sunil Rai
Larissa Leydier
Shivani Sharma
Jigar Katwala
Anurag Sahu

Frontiers in Pediatrics

doi 10.3389/fped.2023.1126209

8,092 views
11 citations

Original Research

Published on 19 May 2023

A holistic approach to maximise diagnostic output in trio exome sequencing

in Genetics of Common and Rare Diseases

Sandra von Hardenberg
Hannah Wallaschek
Chen Du
Gunnar Schmidt
Bernd Auber

Frontiers in Pediatrics

doi 10.3389/fped.2023.1183891

3,693 views
6 citations