Frontiers in Pediatrics | Genetics of Common and Rare Diseases

Case Report

Published on 25 Aug 2022

Case report and literature review: A de novo pathogenic missense variant in ACTN4 gene caused rapid progression to end-stage renal disease

in Genetics of Common and Rare Diseases

Zhechi He
Ke Wu
Wenqing Xie
Jianghua Chen

Frontiers in Pediatrics

doi 10.3389/fped.2022.930258

2,493 views
2 citations

Original Research

Published on 23 Aug 2022

Phelan–McDermid Syndrome in Pediatric Patients With Novel Mutations: Genetic and Phenotypic Analyses

in Genetics of Common and Rare Diseases

Liang Chen
Zhi-ye Yao
Xiangtao Wu
Shao-ru He
Yu-mei Liu
Xue-yan Wang
De-zhi Cao
Xing-kun Yang
Jian-bo Zhao
Zi Ren

Frontiers in Pediatrics

doi 10.3389/fped.2022.888001

2,549 views
3 citations

Case Report

Published on 22 Aug 2022

Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C

in Genetics of Common and Rare Diseases

Suli Zhang
Shuangzhu Lin
Zhenxian Liu
Wanqi Wang
Jiayi Li
Qiandui Chen
Li Yang
Cui Wang
Qiming Pang

Frontiers in Pediatrics

doi 10.3389/fped.2022.898693

1,789 views

Case Report

Published on 22 Aug 2022

Case report: A Chinese boy with facial dysmorphism, immunodeficiency, livedo, and short stature syndrome

in Genetics of Common and Rare Diseases

Lihong Jiang
Xin Chen
Jiaqi Zheng
Meilin Wang
Hui Bo
Geli Liu

Frontiers in Pediatrics

doi 10.3389/fped.2022.933108

2,658 views
1 citation

Case Report

Published on 16 Aug 2022

Treatment of latent tuberculosis in a child with mucopolysaccharidosis type I receiving enzyme replacement therapy: A case report

in Genetics of Common and Rare Diseases

Lauma Vasilevska
Madara Auzenbaha
Ieva Grinfelde
Anita Skangale

Frontiers in Pediatrics

doi 10.3389/fped.2022.973193

1,721 views

Original Research

Published on 10 Aug 2022

Prenatal ultrasound phenotypic and genetic etiology of the 17q12 microduplication syndrome

in Genetics of Common and Rare Diseases

Meiying Cai
Min Lin
Nan Guo
Meimei Fu
Liangpu Xu
Na Lin
Hailong Huang

Frontiers in Pediatrics

doi 10.3389/fped.2022.910497

2,353 views
6 citations

Systematic Review

Published on 08 Aug 2022

Risk factors for severe COVID-19 in people with cystic fibrosis: A systematic review

in Genetics of Common and Rare Diseases

Vito Terlizzi
Marco Antonio Motisi
Roberta Pellegrino
Rita Padoan
Elena Chiappini

Frontiers in Pediatrics

doi 10.3389/fped.2022.958658

4,035 views
14 citations

Original Research

Published on 04 Aug 2022

Whole Exome Sequencing in a Population With Severe Congenital Anomalies of Kidney and Urinary Tract

in Genetics of Common and Rare Diseases

Meredith Harris
Meredith P. Schuh
David McKinney
Kenneth Kaufman
Elif Erkan

Frontiers in Pediatrics

doi 10.3389/fped.2022.898773

3,811 views
3 citations

Original Research

Published on 04 Aug 2022

Cell-free fetal DNA as a non-invasive method using pyrosequencing in detecting beta-globin gene mutation: A pilot study from area with limited facilities in Indonesia

in Genetics of Common and Rare Diseases

Ani Melani Maskoen
Nurul Setia Rahayu
Bremmy Laksono
Azzania Fibriani
Willyanti Soewondo
Johanes C. Mose
Edhyana Sahiratmadja
Ramdan Panigoro

Frontiers in Pediatrics

doi 10.3389/fped.2022.902879

2,571 views
2 citations

Original Research

Published on 27 Jul 2022

Novel NHEJ1 pathogenic variant linked to severe combined immunodeficiency, microcephaly, and abnormal T and B cell receptor repertoires

in Genetics of Common and Rare Diseases

Shirly Frizinsky
Erez Rechavi
Ortal Barel
Yu Nee Lee
Amos J. Simon
Atar Lev
Tali Stauber
Etai Adam
Raz Somech

Frontiers in Pediatrics

doi 10.3389/fped.2022.883173

3,088 views
4 citations

Case Report

Published on 26 Jul 2022

Case report: Compound heterozygous mutations in the KDSR gene cause progressive keratodermia and thrombocytopenia

in Genetics of Common and Rare Diseases

Li Wu
Yajie Zhang
Juan Zi
Yinyan Yan
Lihua Yu
Danna Lin
Lulu Huang
Xiaorong Lai
Xu Liao
Lihua Yang

Frontiers in Pediatrics

doi 10.3389/fped.2022.940618

2,633 views
2 citations

Case Report

Published on 22 Jul 2022

Rare cause of coronary artery ectasia in children: A case report of methylmalonic acidemia with hyperhomocysteinemia

in Genetics of Common and Rare Diseases

Tu Juan
Chen Chao-ying
Li Hua-rong
Wan Ling

Frontiers in Pediatrics

doi 10.3389/fped.2022.917734

2,061 views
1 citation

Original Research

Published on 22 Jul 2022

Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review

in Genetics of Common and Rare Diseases

Huakun Shangguan
Ruimin Chen

Frontiers in Pediatrics

doi 10.3389/fped.2022.940294

4,867 views
9 citations

Original Research

Published on 22 Jul 2022

Regulation of COL1A2, AKT3 genes, and related signaling pathway in the pathology of congenital talipes equinovarus

in Genetics of Common and Rare Diseases

Ningqing Wang
Jiangchao Zhang
Haixiang Lv
Zhenjiang Liu

Frontiers in Pediatrics

doi 10.3389/fped.2022.890109

2,285 views
2 citations

Case Report

Published on 19 Jul 2022

Case Report: Prenatal Diagnosis of Nemaline Myopathy

in Genetics of Common and Rare Diseases

Dongmei Liu
Jiali Yu
Xin Wang
Yang Yang
Li Yu
Shi Zeng
Ming Zhang
Ganqiong Xu

Frontiers in Pediatrics

doi 10.3389/fped.2022.937668

5,069 views
5 citations

Original Research

Published on 19 Jul 2022

Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents—A case study

in Genetics of Common and Rare Diseases

Jun Chen
Yifan Yang
Binjie Liu
Xiaoli Xie
Wenjie Li

Frontiers in Pediatrics

doi 10.3389/fped.2022.914243

3,344 views