Frontiers in Pediatrics | Genetics of Common and Rare Diseases

Original Research

Published on 29 Aug 2024

A novel and apparent de novo ALAS2 missense variant associated with congenital sideroblastic anemia

in Genetics of Common and Rare Diseases

Jianling Cai
Tianming Liu
Yuxuan Huang
Hongxing Chen
Meidie Yu
Dongqing Zhang
Zhanqin Huang

Frontiers in Pediatrics

doi 10.3389/fped.2024.1411676

1,413 views

Original Research

Published on 27 Aug 2024

The mediating role of metabolites between gut microbiome and Hirschsprung disease: a bidirectional two-step Mendelian randomization study

in Genetics of Common and Rare Diseases

Zhe Wang
Bingjun Gao
Xiao Liu
Aiwu Li

Frontiers in Pediatrics

doi 10.3389/fped.2024.1371933

1,615 views
1 citation

Case Report

Published on 15 Jul 2024

Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in FBN1 and a literature review

in Genetics of Common and Rare Diseases

Fengyan Tian
Xiao Dong
Ruyue Yuan
Xiaohan Hou
Jing Qing
Yani Li

Frontiers in Pediatrics

doi 10.3389/fped.2024.1428513

1,905 views

Original Research

Published on 15 Jul 2024

Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening

in Genetics of Common and Rare Diseases

Hind Alsharhan
Mohammad Z. Haider
Bann Qadoura
Mariam Ayed
Gursev S. Dhaunsi
Hessa Alkandari

Frontiers in Pediatrics

doi 10.3389/fped.2024.1376053

1,529 views
1 citation

Original Research

Published on 04 Jul 2024

Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey

in Genetics of Common and Rare Diseases

Bengisu Guner Yilmaz
Ozlem Akgun-Dogan
Ozkan Ozdemir
Bayram Yuksel
Ozden Hatirnaz Ng
Kaya Bilguvar
Beril Ay
Gulsah Sebnem Ozkose
Eylul Aydin
Ayca Yigit

Frontiers in Pediatrics

doi 10.3389/fped.2024.1412880

3,240 views
1 citation

Case Report

Published on 04 Jul 2024

Identification of a novel METTL23 gene variant in a patient with an intellectual development disorder: a literature review and case report

in Genetics of Common and Rare Diseases

Jian Zha
Yong Chen
Fangfang Cao
Yanghong Yu
Ruiyan Wang
Jianmin Zhong

Frontiers in Pediatrics

doi 10.3389/fped.2024.1328063

1,939 views

Original Research

Published on 26 Jun 2024

Identification of diagnostic biomarkers and potential therapeutic targets for biliary atresia via WGCNA and machine learning methods

in Genetics of Common and Rare Diseases

Lei Xu
Ting Xiao
Biao Zou
Zhihui Rong
Wei Yao

Frontiers in Pediatrics

doi 10.3389/fped.2024.1339925

1,833 views

Case Report

Published on 11 Jun 2024

Bardet-Biedl syndrome in a 19-year-old male: the first case report from Palestine

in Genetics of Common and Rare Diseases

Hamza B. Karmi
Yahya Abu Jwaid
Mohammad Hakam Shehadeh
Dareen Njoom
Aya Awwad
Hasan Eideh

Frontiers in Pediatrics

doi 10.3389/fped.2024.1420684

2,544 views

Original Research

Published on 31 May 2024

A mild phenotype associated with KCNQ1 p.V205M mediated long QT syndrome in First Nations children of Northern British Columbia: effect of additional variants and considerations for management

in Genetics of Common and Rare Diseases

Simona Bene Watts
Barbara Gauthier
Anders C. Erickson
Julie Morrison
Mavis Sebastian
Lawrence Gillman
Sarah McIntosh
Connie Ens
Elizabeth Sherwin
Rod McCormick

Frontiers in Pediatrics

doi 10.3389/fped.2024.1394105

1,668 views
2 citations

Case Report

Published on 30 May 2024

Case Report: New presentation of CLIFAHDD syndrome with a novel variant in the NALCN gene and a literature review

in Genetics of Common and Rare Diseases

Yi Chen
Xiaotong Xia
Yiwen Zhang
Li Gao
Chenyiyi He
Jianguo Cao

Frontiers in Pediatrics

doi 10.3389/fped.2024.1370790

3,082 views
2 citations

Case Report

Published on 30 May 2024

A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report

in Genetics of Common and Rare Diseases

Maria Cristina Artesani
Sara Santarsiero
Emanuela Sitzia
Francesca Romana Lepri
Monia Magliozzi
Fabio Majo
Nicola Ullmann
Alessandra Stracuzzi
Antonio Novelli
Giovanni Cristalli

Frontiers in Pediatrics

doi 10.3389/fped.2024.1345265

1,578 views

Original Research

Published on 27 May 2024

Exploring the clinical complexity of cardio-facio-cutaneous syndrome: insights from a pediatric case series

in Genetics of Common and Rare Diseases

Yuexu Ou
Jie Cao
Yuanhui Duan
FengHua Chen
Jiwei Zhou
Jieling Li
Xiaoming Gan

Frontiers in Pediatrics

doi 10.3389/fped.2024.1355277

1,662 views

Original Research

Published on 09 May 2024

Genetic background of primary and familial HLH in Qatar: registry data and population study

in Genetics of Common and Rare Diseases

Elkhansa Elgaali
Massimo Mezzavilla
Ikhlak Ahmed
Mohammed Elanbari
Aesha Ali
Ghada Abdelaziz
Khalid A. Fakhro
Ayman Saleh
Tawfeg Ben-Omran
Naima Almulla

Frontiers in Pediatrics

doi 10.3389/fped.2024.1326489

1,772 views
1 citation

Case Report

Published on 09 May 2024

Case Report: Identification of a novel PRR12 variant in a Chinese boy with developmental delay and short stature

in Genetics of Common and Rare Diseases

Zhengxia Liu
Shuxia Ding
Guangwei Xu
Chunyan Fang

Frontiers in Pediatrics

doi 10.3389/fped.2024.1367131

2,282 views

Case Report

Published on 01 May 2024

Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report

in Genetics of Common and Rare Diseases

Federico Baltar
Camila Simoes
Francisco Garagorry
Martín Graña
Soledad Rodríguez
María Haydée Aunchayna
Alejandra Tapié
Alfredo Cerisola
Gabriel González
Hugo Naya

Frontiers in Pediatrics

doi 10.3389/fped.2024.1379254

1,775 views

Case Report

Published on 30 Apr 2024

Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia

in Genetics of Common and Rare Diseases

Amal Y. Kentab
Yara Alsalloum
Mai Labani
Abrar Hudairi
Muddathir H. Hamad
Dima Z. Jamjoom
Ali H. Alwadei
Reem M. Alhammad
Fahad A. Bashiri

Frontiers in Pediatrics

doi 10.3389/fped.2024.1377515

2,458 views