Original Research

Published on 22 Aug 2022

Prospective study of pediatric patients presenting with idiopathic infantile nystagmus—Management and molecular diagnostics

in Genetics of Common and Rare Diseases

Nancy Aychoua
Elena Schiff
Samantha Malka
Vijay K Tailor
Hwei Wuen Chan
Ngozi Oluonye
Maria Theodorou
Mariya Moosajee

Frontiers in Genetics

doi 10.3389/fgene.2022.977806

2,686 views
6 citations

Case Report

Published on 22 Aug 2022

Case Report: Long-term follow-up of desert hedgehog variant caused 46, XY gonadal dysgenesis with multiple complications in a Chinese child

in Genetics of Common and Rare Diseases

Lili Pan
Zhuoguang Li
Zhe Su
Wei Su
Rongfei Zheng
Weiyan Chen
Xuezhi He
Jianming Song
Shoulin Li
Pengqiang Wen

Frontiers in Genetics

doi 10.3389/fgene.2022.954288

1,817 views
1 citation

Original Research

Published on 22 Aug 2022

Efficacy of Long-Term Treatment of Autosomal Recessive Hypercholesterolemia With Lomitapide: A Subanalysis of the Pan-European Lomitapide Study

in Genetics of Common and Rare Diseases

Laura D’Erasmo
Antonina Giammanco
Patrizia Suppressa
Chiara Pavanello
Gabriella Iannuzzo
Alessia Di Costanzo
Daniele Tramontano
Ilenia Minicocci
Simone Bini
Anja Vogt

Frontiers in Genetics

doi 10.3389/fgene.2022.937750

2,443 views
7 citations

Original Research

Published on 19 Aug 2022

Low circulating PCSK9 levels in LPL homozygous children with chylomicronemia syndrome in a syrian refugee family in Lebanon

in Genetics of Common and Rare Diseases

Carine Ayoub
Yara Azar
Dina Maddah
Youmna Ghaleb
Sandy Elbitar
Yara Abou-Khalil
Selim Jambart
Mathilde Varret
Catherine Boileau
Petra El Khoury

Frontiers in Genetics

doi 10.3389/fgene.2022.961028

1,858 views
1 citation

Original Research

Published on 17 Aug 2022

Targeted re-sequencing on 1p22 among non-syndromic orofacial clefts from Han Chinese population

in Genetics of Common and Rare Diseases

Mu-Jia Li
Jia-Yu Shi
Bi-He Zhang
Qian-Ming Chen
Bing Shi
Zhong-Lin Jia

Frontiers in Genetics

doi 10.3389/fgene.2022.947126

3,244 views

Case Report

Published on 17 Aug 2022

Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles

in Genetics of Common and Rare Diseases

Khalid Al Hawsawi
Mazin Al Jabri
Mazen S. Dajam
Bashaer Almahdi
Waseem K. Alhawsawi
Safdar Abbas
Abeer Al Tuwaijri
Muhammad Umair
Majid Alfadhel
Sultan Al-Khenaizan

Frontiers in Genetics

doi 10.3389/fgene.2022.994509

1,498 views

Original Research

Published on 16 Aug 2022

Clinical characteristics and variant analyses of transient infantile hypertriglyceridemia related to GPD1 gene

in Genetics of Common and Rare Diseases

Jun Wang
Xinrong Sun
Lianying Jiao
Zhengtao Xiao
Farooq Riaz
Yufeng Zhang
Pengfei Xu
Ruiqing Liu
Tiantian Tang
Meiqi Liu

Frontiers in Genetics

doi 10.3389/fgene.2022.916672

2,930 views
3 citations

Case Report

Published on 16 Aug 2022

Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study

in Genetics of Common and Rare Diseases

Yijia Liang
Honglin Wu
Xiumei He
Xiyu He

Frontiers in Genetics

doi 10.3389/fgene.2022.932073

4,787 views
1 citation

Review

Published on 16 Aug 2022

Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevance

in Genetics of Common and Rare Diseases

Ze-Xu Chen
Wan-Nan Jia
Yong-Xiang Jiang

Frontiers in Genetics

doi 10.3389/fgene.2022.943083

7,150 views
14 citations

Original Research

Published on 16 Aug 2022

Juvenile-onset PSAT1-related neuropathy: A milder phenotype of serine deficiency disorder

in Genetics of Common and Rare Diseases

Yu Shen
Yun Peng
Pengcheng Huang
Yilei Zheng
Shumeng Li
Kaiyan Jiang
Meihong Zhou
Jianwen Deng
Min Zhu
Daojun Hong

Frontiers in Genetics

doi 10.3389/fgene.2022.949038

2,904 views
4 citations

Case Report

Published on 16 Aug 2022

Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1

in Genetics of Common and Rare Diseases

R. Villafuerte-De la Cruz
O. F. Chacon-Camacho
A. C. Rodriguez-Martinez
N. Xilotl-De Jesus
R. Arce-Gonzalez
C. Rodriguez-De la Torre
J. E. Valdez-Garcia
A. Rojas-Martinez
J. C. Zenteno

Frontiers in Genetics

doi 10.3389/fgene.2022.949437

2,631 views
3 citations

Brief Research Report

Published on 16 Aug 2022

A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review

in Genetics of Common and Rare Diseases

Ursa Sustar
Urh Groselj
Sabeen Abid Khan
Saeed Shafi
Iqbal Khan
Jernej Kovac
Barbara Jenko Bizjan
Tadej Battelino
Fouzia Sadiq

Frontiers in Genetics

doi 10.3389/fgene.2022.983283

3,025 views
2 citations

Original Research

Published on 15 Aug 2022

Identifying key genes in CD4+ T cells of systemic lupus erythematosus by integrated bioinformatics analysis

in Genetics of Common and Rare Diseases

Zutong Li
Zhilong Wang
Tian Sun
Shanshan Liu
Shuai Ding
Lingyun Sun

Frontiers in Genetics

doi 10.3389/fgene.2022.941221

3,596 views
5 citations

Case Report

Published on 15 Aug 2022

Case report: Multiple gastrointestinal perforations in a rare musculocontractural Ehlers–Danlos syndrome with multiple organ dysfunction

in Genetics of Common and Rare Diseases

Huitao Qian
Tao Zhou
Nan Zheng
Qiulun Lu
Yi Han

Frontiers in Genetics

doi 10.3389/fgene.2022.846529

1,918 views
3 citations

Case Report

Published on 15 Aug 2022

Case Report: Chinese female patients with a heterozygous pathogenic RPS6KA3 gene variant c.898C>T and distal 22q11.2 microdeletion

in Genetics of Common and Rare Diseases

Yan Cong
Hongxing Jin
Ke Wu
Hao Wang
Dong Wang

Frontiers in Genetics

doi 10.3389/fgene.2022.900226

2,213 views
1 citation

Original Research

Published on 12 Aug 2022

Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation

in Genetics of Common and Rare Diseases

Haijun Li
Zhiming Li
Degang Wang
Chuanming Chen
Zhiqiang Chen
Jinhua Wang
Chenxia Xu
Xingsheng Dong

Frontiers in Genetics

doi 10.3389/fgene.2022.870232

1,979 views
1 citation

Navigation group

Articles

Prospective study of pediatric patients presenting with idiopathic infantile nystagmus—Management and molecular diagnostics

Case Report: Long-term follow-up of desert hedgehog variant caused 46, XY gonadal dysgenesis with multiple complications in a Chinese child

Efficacy of Long-Term Treatment of Autosomal Recessive Hypercholesterolemia With Lomitapide: A Subanalysis of the Pan-European Lomitapide Study

Low circulating PCSK9 levels in LPL homozygous children with chylomicronemia syndrome in a syrian refugee family in Lebanon

Targeted re-sequencing on 1p22 among non-syndromic orofacial clefts from Han Chinese population

Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles

Clinical characteristics and variant analyses of transient infantile hypertriglyceridemia related to GPD1 gene

Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study

Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevance

Juvenile-onset PSAT1-related neuropathy: A milder phenotype of serine deficiency disorder

Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1

A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review

Identifying key genes in CD4+ T cells of systemic lupus erythematosus by integrated bioinformatics analysis

Case report: Multiple gastrointestinal perforations in a rare musculocontractural Ehlers–Danlos syndrome with multiple organ dysfunction

Case Report: Chinese female patients with a heterozygous pathogenic RPS6KA3 gene variant c.898C>T and distal 22q11.2 microdeletion

Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation