Frontiers in Pediatrics | Genetics of Common and Rare Diseases

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

2,676 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

1,421 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

1,493 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

1,550 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

2,086 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

1,614 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

2,222 views

Case Report

Published on 25 Apr 2024

Case Report: A novel RRM2B variant in a Chinese infant with mitochondrial DNA depletion syndrome and collective analyses of RRM2B variants for disease etiology

in Genetics of Common and Rare Diseases

Yanjun Wang
Ling Hang
Weihua Shou
Cuifen Li
Fangling Dong
Xingxing Feng
Ruohong Jin
Bin Li
Shufang Xiao

Frontiers in Pediatrics

doi 10.3389/fped.2024.1363728

1,487 views
1 citation

Original Research

Published on 22 Apr 2024

Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing

in Genetics of Common and Rare Diseases

Danya Salah Baz
Dareen Baz
Fawzah Alrwuili
Abdullah Aldowaish
Hanan E. Shamseldin
Ayman Elhomoudi
Fowzan S. Alkuraya

Frontiers in Pediatrics

doi 10.3389/fped.2024.1392444

1,513 views
1 citation

Case Report

Published on 03 Apr 2024

Case Report: A developmental and epileptic encephalopathy 45 due to de novo variant of GABRB1

in Genetics of Common and Rare Diseases

Lu Wang
Haiquan Xu
Jianbo Shu
Dandan Yan
Dong Li
Chunquan Cai

Frontiers in Pediatrics

doi 10.3389/fped.2024.1346987

1,346 views

Case Report

Published on 03 Apr 2024

Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome

in Genetics of Common and Rare Diseases

Takuya Hiraide
Taiju Hayashi
Yusuke Ito
Rei Urushibata
Hiroshi Uchida
Ryoichi Kitagata
Hidetoshi Ishigaki
Tsutomu Ogata
Hirotomo Saitsu
Tokiko Fukuda

Frontiers in Pediatrics

doi 10.3389/fped.2024.1360867

1,838 views
1 citation

Case Report

Published on 02 Apr 2024

A novel termination site in a case of Stüve–Wiedemann syndrome: case report and review of literature

in Genetics of Common and Rare Diseases

Deepali Bhalla
Sunil Sati
Donald Basel
Vijender Karody

Frontiers in Pediatrics

doi 10.3389/fped.2024.1341841

1,320 views

Case Report

Published on 28 Mar 2024

Case Report: Expanding the phenotypic spectrum of PURA syndrome in South America with the first presentation of concurrent vitiligo

in Genetics of Common and Rare Diseases

S. Mora-Martinez
Natalia Castaño-Giraldo
Humberto Alejandro Nati-Castillo
Laura Barahona Machado
Tatiana Mora Arbeláez
G. Gordillo-Gonzalez
Juan S. Izquierdo-Condoy

Frontiers in Pediatrics

doi 10.3389/fped.2024.1323014

2,283 views
1 citation

Case Report

Published on 22 Mar 2024

Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanism

in Genetics of Common and Rare Diseases

Caichuan Wei
Haiju Zhang
Miaoying Fu
Jingping Ye
Baozhen Yao

Frontiers in Pediatrics

doi 10.3389/fped.2024.1305754

1,827 views
2 citations

Case Report

Published on 21 Mar 2024

Case Report: Autosomal dominant polycystic kidney disease and Wilms’ tumor in infancy and childhood

in Genetics of Common and Rare Diseases

Doviltyte Zina
Kiudeliene Rosita
Zviniene Kristina
Rutkauskiene Giedre
Masalskiene Jurate

Frontiers in Pediatrics

doi 10.3389/fped.2024.1322142

2,811 views
3 citations

Original Research

Published on 20 Mar 2024

The significance of machine learning in neonatal screening for inherited metabolic diseases

in Genetics of Common and Rare Diseases

Xiangchun Yang
Shuxia Ding
Jianping Zhang
Zhuojie Hu
Danyan Zhuang
Fei Wang
Shanshan Wu
Changshui Chen
Haibo Li

Frontiers in Pediatrics

doi 10.3389/fped.2024.1366891

2,389 views
1 citation