Original Research

Published on 08 Apr 2022

Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing

in Genetics of Common and Rare Diseases

Jianlong Zhuang
Chunnuan Chen
Yu'e Chen
Qi Luo
Yuanbai Wang
Yuying Jiang
Shuhong Zeng
Yingjun Xie
Dongmei Chen

Frontiers in Pediatrics

doi 10.3389/fped.2022.816090

2,257 views
4 citations

Case Report

Published on 08 Apr 2022

Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology

in Genetics of Common and Rare Diseases

Danijela Petković Ramadža
Ivana Kuhtić
Kamelija Žarković
Hanns Lochmüller
Mislav Čavka
Ida Kovač
Ivo Barić
Maja Prutki

Frontiers in Pediatrics

doi 10.3389/fped.2022.847445

1,767 views
3 citations

Case Report

Published on 06 Apr 2022

Case Report: A Missense Mutation in Dyskeratosis Congenita 1 Leads to a Benign Form of Dyskeratosis Congenita Syndrome With the Mucocutaneous Triad

in Genetics of Common and Rare Diseases

Liqing Wang
Jianwei Li
Qiuhong Xiong
Yong-An Zhou
Ping Li
Changxin Wu

Frontiers in Pediatrics

doi 10.3389/fped.2022.834268

2,431 views
1 citation

Case Report

Published on 04 Apr 2022

Identification of a Hemizygous Novel Splicing Variant in ATRX Gene: A Case Report and Literature Review

in Genetics of Common and Rare Diseases

Yan Cong
Jie Wu
Hao Wang
Ke Wu
Cui Huang
Xuejian Yang

Frontiers in Pediatrics

doi 10.3389/fped.2022.834087

2,831 views
3 citations

Original Research

Published on 30 Mar 2022

Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay

in Genetics of Common and Rare Diseases

Aviva Eliyahu
Ortal Barel
Lior Greenbaum
Gal Zaks Hoffer
Yael Goldberg
Annick Raas-Rothschild
Amihood Singer
Ifat Bar-Joseph
Vered Kunik
Elisheva Javasky

Frontiers in Pediatrics

doi 10.3389/fped.2022.844845

5,648 views
12 citations

Original Research

Published on 28 Mar 2022

Establishment of Cutoff Values for Newborn Screening of Six Lysosomal Storage Disorders by Tandem Mass Spectrometry

in Genetics of Common and Rare Diseases

Ruotong Li
Liping Tian
Qing Gao
Yuanfang Guo
Gaijie Li
Yulin Li
Meng Sun
Yan Yan
Qing Li
Wenying Nie

Frontiers in Pediatrics

doi 10.3389/fped.2022.814461

4,430 views
7 citations

Case Report

Published on 23 Mar 2022

Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1

in Genetics of Common and Rare Diseases

Won Kyung Kwon
Jee Ah Kim
Jong-Ho Park
Doo Ri Kim
Su Eun Park
Yae Jean Kim
Keon Hee Yoo
Ja-Hyun Jang
Eun Suk Kang

Frontiers in Pediatrics

doi 10.3389/fped.2022.812590

1,989 views
1 citation

Case Report

Published on 14 Mar 2022

Case Report: Novel CA12 Homozygous Variant Causing Isolated Hyperchloridrosis in a Chinese Child With Hyponatremia

in Genetics of Common and Rare Diseases

Meigui Han
Min Peng
Ziming Han
Xiaojuan Zhu
Qian Huang
Weiyue Gu
Yong Guo

Frontiers in Pediatrics

doi 10.3389/fped.2022.820707

2,046 views
1 citation

Case Report

Published on 10 Mar 2022

Case Report: A Novel Compound Heterozygote Mutation of the SCNN1B Gene Identified in a Chinese Familial Pseudohypoaldosteronism Disease Type I With Persistent Hyperkalemia

in Genetics of Common and Rare Diseases

Zongzhi Liu
Xiaojiao Wang
Zilong Zhang
Zixin Yang
Junyun Wang
Yajuan Wang

Frontiers in Pediatrics

doi 10.3389/fped.2022.831284

2,022 views
1 citation

Case Report

Published on 10 Mar 2022

Case Report: Successful Management of a 29-Day-Old Infant With Severe Hyperlipidemia From a Novel Homozygous Variant of GPIHBP1 Gene

in Genetics of Common and Rare Diseases

Shu Liu
Zhiqing Wang
Xianhua Zheng
Ye Zhang
Sisi Wei
Haimei OuYang
Jinqun Liang
Nuan Chen
Weihong Zeng
Jianhui Jiang

Frontiers in Pediatrics

doi 10.3389/fped.2022.792574

2,887 views
2 citations

Original Research

Published on 07 Mar 2022

Evaluation of Growth Hormone Therapy in Seven Chinese Children With Familial Short Stature Caused by Novel ACAN Variants

in Genetics of Common and Rare Diseases

Jie Sun
Lihong Jiang
Geli Liu
Chen Ma
Jiaqi Zheng
Lele Niu

Frontiers in Pediatrics

doi 10.3389/fped.2022.819074

2,659 views
1 citation

Original Research

Published on 07 Mar 2022

LncRNA-RMST Functions as a Transcriptional Co-regulator of SOX2 to Regulate miR-1251 in the Progression of Hirschsprung's Disease

in Genetics of Common and Rare Diseases

Lingling Zhou
Zhengke Zhi
Pingfa Chen
Chunxia Du
Binyu Wang
Xiang Fang
Weibing Tang
Hongxing Li

Frontiers in Pediatrics

doi 10.3389/fped.2022.749107

2,233 views
10 citations

Case Report

Published on 04 Mar 2022

Compound Heterozygous Variants in a Surviving Patient With Alkuraya-Kučinskas Syndrome: A New Case Report and a Review of the Literature

in Genetics of Common and Rare Diseases

Ling Yue
Mei Jin
Xin Wang
Jing Wang
Ling Chen
Rong Jia
Zuozhen Yang
Fan Yang
Jingman Li
Cuiying Chen

Frontiers in Pediatrics

doi 10.3389/fped.2022.806752

3,196 views
1 citation

Case Report

Published on 28 Feb 2022

Case Report: First Case of Non-restrictive Ventricular Septal Defect With Congestive Heart Failure in a Chinese Han Male Infant Carrying a Class II Chromosome 17p13.3 Microduplication

in Genetics of Common and Rare Diseases

Yung-Yu Yang
Chun-Ting Liu
Li-Fan Pai
Chih-Fen Hu
Shyi-Jou Chen
Wan-Fu Hsu

Frontiers in Pediatrics

doi 10.3389/fped.2022.825298

2,665 views

Case Report

Published on 21 Feb 2022

Case Report: A Case of β-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by UPB1 Variant and Mitochondrial Gene Variant

in Genetics of Common and Rare Diseases

Jianbo Shu
Xiufang Zhi
Jing Chen
Meifang Lei
Jie Zheng
Wenchao Sheng
Chunhua Zhang
Dong Li
Chunquan Cai

Frontiers in Pediatrics

doi 10.3389/fped.2022.838341

2,744 views
3 citations

Case Report

Published on 21 Feb 2022

Whole-Exome Sequencing Reveals a Missense Variant c.1612C>T (p.Arg538Cys) in the BTD Gene Leading to Neuromyelitis Optica Spectrum Disorder in Saudi Families

in Genetics of Common and Rare Diseases

Muhammad Imran Naseer
Peter Natesan Pushparaj
Angham Abdulrahman Abdulkareem
Osama Y. Muthaffar

Frontiers in Pediatrics

doi 10.3389/fped.2021.829251

2,956 views
4 citations

Navigation group

Articles

Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing

Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology

Case Report: A Missense Mutation in Dyskeratosis Congenita 1 Leads to a Benign Form of Dyskeratosis Congenita Syndrome With the Mucocutaneous Triad

Identification of a Hemizygous Novel Splicing Variant in ATRX Gene: A Case Report and Literature Review

Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay

Establishment of Cutoff Values for Newborn Screening of Six Lysosomal Storage Disorders by Tandem Mass Spectrometry

Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1

Case Report: Novel CA12 Homozygous Variant Causing Isolated Hyperchloridrosis in a Chinese Child With Hyponatremia

Case Report: A Novel Compound Heterozygote Mutation of the SCNN1B Gene Identified in a Chinese Familial Pseudohypoaldosteronism Disease Type I With Persistent Hyperkalemia

Case Report: Successful Management of a 29-Day-Old Infant With Severe Hyperlipidemia From a Novel Homozygous Variant of GPIHBP1 Gene

Evaluation of Growth Hormone Therapy in Seven Chinese Children With Familial Short Stature Caused by Novel ACAN Variants

LncRNA-RMST Functions as a Transcriptional Co-regulator of SOX2 to Regulate miR-1251 in the Progression of Hirschsprung's Disease

Compound Heterozygous Variants in a Surviving Patient With Alkuraya-Kučinskas Syndrome: A New Case Report and a Review of the Literature

Case Report: First Case of Non-restrictive Ventricular Septal Defect With Congestive Heart Failure in a Chinese Han Male Infant Carrying a Class II Chromosome 17p13.3 Microduplication

Case Report: A Case of β-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by UPB1 Variant and Mitochondrial Gene Variant

Whole-Exome Sequencing Reveals a Missense Variant c.1612C>T (p.Arg538Cys) in the BTD Gene Leading to Neuromyelitis Optica Spectrum Disorder in Saudi Families