Phenotype Spectrum | List of Frontiers open access articles

Original Research

Published on 11 Nov 2022

Genotype and phenotype spectrum of 10 children with STXBP1 gene-related encephalopathy and epilepsy

in Genetics of Common and Rare Diseases

Meng Dong
Tianyu Zhang
Ruimei Hu
Meng Li
Guan Wang
Xinjie Liu

Frontiers in Pediatrics

doi 10.3389/fped.2022.1010886

7,112 views
5 citations

Brief Research Report

Published on 27 Aug 2024

LZTR1 loss-of-function variants associated with café au lait macules with or without freckling

in Pediatric Neurology

Svea Horn
Teresa Neuhann
Corina Hennig
Angela Abad-Perez
Eva-Christina Prott
Lisa Cardellini
Cornelia Potratz
Jonas Leubner
Birgit Eichhorn
Martin Merkel

Frontiers in Neurology

doi 10.3389/fneur.2024.1391425

4,915 views
1 citation

Case Report

Published on 30 Jun 2020

A de novo DDX3X Variant Is Associated With Syndromic Intellectual Disability: Case Report and Literature Review

in Genetics of Common and Rare Diseases

Yun Chen
Kai-Yu Liu
Zai-Lan Yang
Xiao-Huan Li
Rui Xu
Hao Zhou

Frontiers in Pediatrics

doi 10.3389/fped.2020.00303

8,812 views
10 citations

Case Report

Published on 11 Dec 2020

Case Report: A de novo CTNNB1 Nonsense Mutation Associated With Neurodevelopmental Disorder, Retinal Detachment, Polydactyly

in Pediatric Neurology

Zhongling KE
Yanhui CHEN

Frontiers in Pediatrics

doi 10.3389/fped.2020.575673

6,795 views
18 citations

Original Research

Published on 18 Sep 2023

Exome sequencing identified novel variants in three Chinese patients with 5,10-methenyltetrahydrofolate synthetase deficiency

in Human and Medical Genomics

Xiaoyan Xu
Jing Zhu
Liwei Fang
Zhuo Zou
Jingjing Yuan
Min Peng
Guoliang Yu
De Wu
Yun Liu
Jiulai Tang

Frontiers in Genetics

doi 10.3389/fgene.2023.1236849

4,207 views
1 citation

Brief Research Report

Published on 10 Jul 2020

A Pathogenic Variant p.Phe177Val in PSEN1 Causes Early-Onset Alzheimer’s Disease in a Chinese Family

in Genomic Medicine

Bin Jiang
Min Bi
Jun Li
Qi Liu
Nai-An Xiao
Jie Fang
Man-Yi Shi
Zi-Wen Yu
Qi-Lin Ma
Sui-Jun Tong

Frontiers in Genetics

doi 10.3389/fgene.2020.00713

3,624 views
8 citations

Case Report

Published on 12 May 2025

Case Report: a novel homozygous ASNS variant in a Chinese female with severe microcephaly, encephalopathy and epilepsy

in Neurodevelopment

Shuangxi Cheng
Fang Zhang
Qingming Wang
Jianfei Zhang
Guizhen Lyu
Yanwei Li
Xinlong Zhou
Haiming Yuan

Frontiers in Neuroscience

doi 10.3389/fnins.2025.1570160

2,015 views
2 citations

Case Report

Published on 17 Feb 2025

Case report: A novel intronic JMJD6 likely pathogenic variant (c.941+75G > T) associated with congenital eyelid coloboma in one of the identical twin sisters

in Genetics of Common and Rare Diseases

Xin Li
Yuqi Zhang
Gang Chai
Weijie Su
Yan Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1536000

1,835 views

Case Report

Published on 09 Feb 2023

Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly

in Neurogenetics

Ethiraj Ravindran
Gaetan Lesca
Louis Januel
Linus Goldgruber
Achim Dickmanns
Henri Margot
Angela M. Kaindl

Frontiers in Neurology

doi 10.3389/fneur.2023.1124886

3,931 views
10 citations

Original Research

Published on 28 Oct 2021

Mutagenic Effect of Proton Beams Characterized by Phenotypic Analysis and Whole Genome Sequencing in Arabidopsis

in Plant Breeding

Sang Woo Lee
Yu-Jeong Kwon
Inwoo Baek
Hong-Il Choi
Joon-Woo Ahn
Jin-Baek Kim
Si-Yong Kang
Sang Hoon Kim
Yeong Deuk Jo

Frontiers in Plant Science

doi 10.3389/fpls.2021.752108

4,497 views
13 citations

Brief Research Report

Published on 24 Mar 2022

A Novel Mutation in the Membrane Frizzled-Related Protein Gene for Posterior Microphthalmia, Non-pigmented Retinitis Pigmentosa, Optic Nerve Drusen, and Retinoschisis in a Consanguineous Family

in Ophthalmology

Xiang Ren
Yunxia Gao
Yu Lin
Xiangyu Fu
Lirong Xiao
Xiaoyue Wang
Zhibing Zeng
Li Bao
Naihong Yan
Ming Zhang

Frontiers in Medicine

doi 10.3389/fmed.2022.835621

4,772 views
6 citations

Case Report

Published on 27 Apr 2022

Case Report: A Novel Homozygous Frameshift Mutation of the SKIV2L Gene in a Trichohepatoenteric Syndrome Patient Presenting With Short Stature, Premature Ovarian Failure, and Osteoporosis

in Human and Medical Genomics

Minyi Yang
Yu Jiang
Xinyu Shao

Frontiers in Genetics

doi 10.3389/fgene.2022.879899

3,536 views
5 citations

Review

Published on 02 Oct 2025

Clinical characteristics, molecular mechanisms, and exploration of association with gastrointestinal symptoms in CHAMP1 gene variation-related neurodevelopmental disorders

in Neurogenetics

Ziming Xu
Yan Xu
Xiaoyou Tao
Chen Chen
Guojuan Dong

Frontiers in Neurology

doi 10.3389/fneur.2025.1664776

2,955 views

Original Research

Published on 26 Jul 2022

Molecular and clinical characteristics of ATP1A3-related diseases

in Neurogenetics

Yinchao Li
Xianyue Liu
Chengzhe Wang
Zhengwei Su
Ke Zhao
Man Yang
Shuda Chen
Liemin Zhou

Frontiers in Neurology

doi 10.3389/fneur.2022.924788

7,390 views
12 citations

Case Report

Published on 21 Mar 2023

Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy

in Genetics of Common and Rare Diseases

Cristina Skrypnyk
Aseel Ahmed Husain
Hisham Y. Hassan
Jameel Ahmed
Abdulla Darwish
Latifa Almusalam
Noureddine Ben Khalaf
Fahad Al Qashar

Frontiers in Genetics

doi 10.3389/fgene.2023.1098102

4,479 views
2 citations

Case Report

Published on 24 Jan 2024

The FGG c.952G>A variant causes congenital dysfibrinogenemia characterized by recurrent cerebral infarction: a case report

in Neurogenetics

Anna Ying
Yuanlin Zhou
Chunyue Wang
Tao Wang
Xuan Zhang
Shanshan Wang
Shaofa Ke
Yuyan Bao
Yang Liu
Feng Wang

Frontiers in Neurology

doi 10.3389/fneur.2024.1272802

3,279 views
2 citations

Articles

Genotype and phenotype spectrum of 10 children with STXBP1 gene-related encephalopathy and epilepsy

LZTR1 loss-of-function variants associated with café au lait macules with or without freckling

A de novo DDX3X Variant Is Associated With Syndromic Intellectual Disability: Case Report and Literature Review

Case Report: A de novo CTNNB1 Nonsense Mutation Associated With Neurodevelopmental Disorder, Retinal Detachment, Polydactyly

Exome sequencing identified novel variants in three Chinese patients with 5,10-methenyltetrahydrofolate synthetase deficiency

A Pathogenic Variant p.Phe177Val in PSEN1 Causes Early-Onset Alzheimer’s Disease in a Chinese Family

Case Report: a novel homozygous ASNS variant in a Chinese female with severe microcephaly, encephalopathy and epilepsy

Case report: A novel intronic JMJD6 likely pathogenic variant (c.941+75G > T) associated with congenital eyelid coloboma in one of the identical twin sisters

Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly

Mutagenic Effect of Proton Beams Characterized by Phenotypic Analysis and Whole Genome Sequencing in Arabidopsis

A Novel Mutation in the Membrane Frizzled-Related Protein Gene for Posterior Microphthalmia, Non-pigmented Retinitis Pigmentosa, Optic Nerve Drusen, and Retinoschisis in a Consanguineous Family

Case Report: A Novel Homozygous Frameshift Mutation of the SKIV2L Gene in a Trichohepatoenteric Syndrome Patient Presenting With Short Stature, Premature Ovarian Failure, and Osteoporosis

Clinical characteristics, molecular mechanisms, and exploration of association with gastrointestinal symptoms in CHAMP1 gene variation-related neurodevelopmental disorders

Molecular and clinical characteristics of ATP1A3-related diseases

Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy

The FGG c.952G>A variant causes congenital dysfibrinogenemia characterized by recurrent cerebral infarction: a case report