Case Report

Published on 12 Jun 2023

Novel compound heterozygous variants of SLC12A3 gene in a Chinese patient with Gitelman syndrome: a case report

in Genetics of Common and Rare Diseases

Wenqing Chen
Qin Zhou
Hongjun Chen
Heng Li
Jianghua Chen

Frontiers in Genetics

doi 10.3389/fgene.2023.1067242

1,537 views

Clinical Trial

Published on 09 Jun 2023

Cumulative effect of AOC1 gene variants on symptoms and pathological conditions in adult women with fibromyalgia: a pilot study

in Genetics of Common and Rare Diseases

Gülşah Okutan
Teresa Perucho Alcalde
Eva Ruiz Casares
Bruno F. Penadés
Guerthy Melissa Sánchez Niño
Ana Terrén Lora
Sara López Oliva
Lorena Torrente Estríngana
Adriana Duelo
Ismael San Mauro Martín

Frontiers in Genetics

doi 10.3389/fgene.2023.1180777

5,338 views
2 citations

Original Research

Published on 09 Jun 2023

Identifying missing pieces in color vision defects: a genome-wide association study in Silk Road populations

in Genetics of Common and Rare Diseases

Giuseppe Giovanni Nardone
Beatrice Spedicati
Maria Pina Concas
Aurora Santin
Anna Morgan
Lorenzo Mazzetto
Maurizio Battaglia-Parodi
Giorgia Girotto

Frontiers in Genetics

doi 10.3389/fgene.2023.1161696

2,188 views

Original Research

Published on 08 Jun 2023

Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families

in Genetics of Common and Rare Diseases

Angham Abdulrhman Abdulkareem
Qaiser Zaman
Hamza Khan
Sabar Khan
Gauhar Rehman
Nabeel Tariq
Mashal Ahmad
Muhammad Owais
Najumuddin
Osama Yousef Muthaffar

Frontiers in Genetics

doi 10.3389/fgene.2023.1185065

3,233 views
2 citations

Original Research

Published on 08 Jun 2023

A Rab33b missense mouse model for Smith-McCort dysplasia shows bone resorption defects and altered protein glycosylation

in Genetics of Common and Rare Diseases

Milena Dimori
Irina D. Pokrovskaya
Shijie Liu
John T. Sherrill
Horacio Gomez-Acevedo
Qiang Fu
Brian Storrie
Vladimir V. Lupashin
Roy Morello

Frontiers in Genetics

doi 10.3389/fgene.2023.1204296

2,109 views

Original Research

Published on 07 Jun 2023

A multiethnic genome-wide analysis of 19,420 individuals identifies novel loci associated with axial length and shared genetic influences with refractive error and myopia

in Genetics of Common and Rare Diseases

Chen Jiang
Ronald B. Melles
Jie Yin
Qiao Fan
Xiaobo Guo
Ching-Yu Cheng
Mingguang He
David A. Mackey
Jeremy A. Guggenheim
Caroline Klaver

Frontiers in Genetics

doi 10.3389/fgene.2023.1113058

2,725 views
2 citations

Case Report

Published on 06 Jun 2023

Case report: The spectrum of SMPD1 pathogenic variants in Hungary

in Genetics of Common and Rare Diseases

Maria Judit Molnar
Tamas Szlepak
Ildikó Csürke
Szendile Loth
Rita Káposzta
Melinda Erdős
Antal Dezsőfi

Frontiers in Genetics

doi 10.3389/fgene.2023.1158108

1,844 views

Case Report

Published on 06 Jun 2023

The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report

in Genetics of Common and Rare Diseases

Aleksandra Szczawińska-Popłonyk
Natalia Popłonyk
Magdalena Badura-Stronka
Jerome Juengling
Kerstin Huhn
Saskia Biskup
Bartłomiej Bancerz
Jarosław Walkowiak

Frontiers in Genetics

doi 10.3389/fgene.2023.1108852

2,089 views
2 citations

Case Report

Published on 06 Jun 2023

Case report: Sex-specific characteristics of epilepsy phenotypes associated with Xp22.31 deletion: a case report and review

in Genetics of Common and Rare Diseases

Yi Wu
Dan Wu
Yulong Lan
Shaocong Lan
Duo Li
Zexin Zheng
Hongwu Wang
Lian Ma

Frontiers in Genetics

doi 10.3389/fgene.2023.1025390

2,319 views

Case Report

Published on 06 Jun 2023

Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2

in Genetics of Common and Rare Diseases

Ying Su
Chun-Qiong Ran
Zhe-Long Liu
Yan Yang
Gang Yuan
Shu-Hong Hu
Xue-Feng Yu
Wen-Tao He

Frontiers in Genetics

doi 10.3389/fgene.2023.1154087

1,908 views

Case Report

Published on 05 Jun 2023

Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples

in Genetics of Common and Rare Diseases

Lingping Li
Xijing Liu
Qinqin Li
Lili Zhang
Yueyue Xiong
Shanling Liu
He Wang
Hongmei Zhu
Xuemei Zhang

Frontiers in Genetics

doi 10.3389/fgene.2023.1165019

1,760 views
1 citation

Case Report

Published on 05 Jun 2023

Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease

in Genetics of Common and Rare Diseases

Yi-Dan Liu
Dan-Dan Tan
Dan-Yu Song
Yan-Bin Fan
Xiao-Na Fu
Lin Ge
Wei Wei
Hui Xiong

Frontiers in Genetics

doi 10.3389/fgene.2023.1170089

1,635 views

Case Report

Published on 01 Jun 2023

Phenotyping of a novel COL4A4 and novel GLA variant in a patient presenting with microhematuria and mildly impaired kidney function: a case report

in Genetics of Common and Rare Diseases

Markus Ponleitner
Daniela Maria Allmer
Manfred Hecking
Constantin Gatterer
Senta Graf
Mateja Smogavec
Franco Laccone
Paulus Stefan Rommer
Gere Sunder-Plassmann

Frontiers in Genetics

doi 10.3389/fgene.2023.1211858

1,596 views

Original Research

Published on 31 May 2023

A partitioned 88-loci psoriasis genetic risk score reveals HLA and non-HLA contributions to clinical phenotypes in a Newfoundland psoriasis cohort

in Genetics of Common and Rare Diseases

Audrey Bui
Sugandh Kumar
Jared Liu
Faye Orcales
Susanne Gulliver
Lam C. Tsoi
Wayne Gulliver
Wilson Liao

Frontiers in Genetics

doi 10.3389/fgene.2023.1141010

2,653 views
2 citations

Original Research

Published on 31 May 2023

Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome

in Genetics of Common and Rare Diseases

C. Angwin
J. Zschocke
T. Kammin
E. Björck
J. Bowen
A. F. Brady
H. Burns
C. Cummings
R. Gardner
N. Ghali

Frontiers in Genetics

doi 10.3389/fgene.2023.1136339

3,741 views
1 citation

Original Research

Published on 31 May 2023

The same heterozygous Col4A4 mutation triggered different renal pathological changes in Chinese family members

in Genetics of Common and Rare Diseases

Fengming Zhu
Yueqiang Li
Yuxi Wang
Ying Yao
Rui Zeng

Frontiers in Genetics

doi 10.3389/fgene.2023.1180149

2,193 views

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Articles

Novel compound heterozygous variants of SLC12A3 gene in a Chinese patient with Gitelman syndrome: a case report

Cumulative effect of AOC1 gene variants on symptoms and pathological conditions in adult women with fibromyalgia: a pilot study

Identifying missing pieces in color vision defects: a genome-wide association study in Silk Road populations

Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families

A Rab33b missense mouse model for Smith-McCort dysplasia shows bone resorption defects and altered protein glycosylation

A multiethnic genome-wide analysis of 19,420 individuals identifies novel loci associated with axial length and shared genetic influences with refractive error and myopia

Case report: The spectrum of SMPD1 pathogenic variants in Hungary

The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report

Case report: Sex-specific characteristics of epilepsy phenotypes associated with Xp22.31 deletion: a case report and review

Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2

Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples

Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease

Phenotyping of a novel COL4A4 and novel GLA variant in a patient presenting with microhematuria and mildly impaired kidney function: a case report

A partitioned 88-loci psoriasis genetic risk score reveals HLA and non-HLA contributions to clinical phenotypes in a Newfoundland psoriasis cohort

Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome

The same heterozygous Col4A4 mutation triggered different renal pathological changes in Chinese family members