Case Report

Published on 19 Jan 2024

Klippel–Trénaunay syndrome with profound abdominal lymphatic-venous malformation in a three-day-old newborn: a case report and literature review

in Genetics of Common and Rare Diseases

Shih Yang Wei
Yu Peng Liu
Dao Chen Lin
Pei Shan Tsai

Frontiers in Pediatrics

doi 10.3389/fped.2024.1326909

Case Report

Published on 18 Jan 2024

Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series

in Genetics of Common and Rare Diseases

Aysylu Murtazina
Artem Borovikov
Andrey Marakhonov
Artem Sharkov
Inna Sharkova
Alena Mirzoyan
Sviatlana Kulikova
Ralina Ganieva
Viktoriia Zabnenkova
Oksana Ryzhkova

Frontiers in Pediatrics

doi 10.3389/fped.2024.1280394

168 views

Systematic Review

Published on 17 Jan 2024

Genetic outcomes in children with developmental language disorder: a systematic review

in Genetics of Common and Rare Diseases

Vivian van Wijngaarden
Hester de Wilde
Dieuwke Mink van der Molen
Jildo Petter
Inge Stegeman
Ellen Gerrits
Adriana L. Smit
Marie-José van den Boogaard

Frontiers in Pediatrics

doi 10.3389/fped.2024.1315229

259 views

Systematic Review

Accepted on 16 Jan 2024

Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe Disease: A Systematic Review and metanalysis

in Genetics of Common and Rare Diseases

Alícia Dorneles Dornelles
Ana Paula Pedroso Junges
Bárbara Krug
Candice Gonçalves
Haliton A. de Oliveira Junior
Ida Vanessa Doederlein Schwartz

Frontiers in Pediatrics

doi 10.3389/fped.2024.1310317

Case Report

Accepted on 10 Jan 2024

Identification of a novel RPGR mutation associated with retinitis pigmentosa and primary ciliary dyskinesia in a Slovak family: a case report

in Genetics of Common and Rare Diseases

Zuzana Kolková
Peter Durdik
Veronika Holubekova
Anna Durdikova
Milos Jesenak
Peter Banovcin

Frontiers in Pediatrics

doi 10.3389/fped.2024.1339664

Original Research

Published on 08 Jan 2024

An analysis of Pompe newborn screening data: a new prevalence at birth, insight and discussion

in Genetics of Common and Rare Diseases

Ryan Colburn
David Lapidus

Frontiers in Pediatrics

doi 10.3389/fped.2023.1221140

867 views

Original Research

Accepted on 05 Jan 2024

Generation and Characterization of a Zebrafish Gain-of-Function acox1 Mitchell Disease Model

in Genetics of Common and Rare Diseases

Quentin Raas
Austin Wood
Tamara Stevenson
Shanna Swartwood
Suzanne Liu
Rangaramanujam Kannan
Sujatha Kannan
Josh Bonkowsky

Frontiers in Pediatrics

doi 10.3389/fped.2024.1326886

Case Report

Published on 21 Dec 2023

Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia

in Genetics of Common and Rare Diseases

Ferruccio Romano
Elisabetta Amadori
Francesca Madia
Mariasavina Severino
Valeria Capra
Renata Rizzo
Rita Barone
Beatrice Corradi
Luca Maragliano
Mohammad Sadegh Shams Nosrati

Frontiers in Pediatrics

doi 10.3389/fped.2023.1326552

1,178 views

Mini Review

Published on 15 Dec 2023

Neuroimaging features of WOREE syndrome: a mini-review of the literature

in Genetics of Common and Rare Diseases

Laura Battaglia
Giovanna Scorrano
Rossana Spiaggia
Antonio Basile
Stefano Palmucci
Pietro Valerio Foti
Corrado Spatola
Michele Iacomino
Franco Marinangeli
Elisa Francia

Frontiers in Pediatrics

doi 10.3389/fped.2023.1301166

652 views

Case Report

Published on 06 Dec 2023

Case Report: A new case of YARS1-associated autosomal recessive disorder with compound heterozygous and concurrent 47, XXY

in Genetics of Common and Rare Diseases

Janene Kuan
Ashleigh Hansen
Hua Wang

Frontiers in Pediatrics

doi 10.3389/fped.2023.1282253

982 views

Case Report

Published on 29 Nov 2023

Case report: Interleukin-17 targeted biological therapy in netherton syndrome

in Genetics of Common and Rare Diseases

Rahul Mahajan
Shirin Bakshi
Anoop Kumar
Dipankar De
Sanjeev Handa

Frontiers in Pediatrics

doi 10.3389/fped.2023.1297658

793 views

Case Report

Published on 20 Nov 2023

A novel splicing mutation identified in a DMD patient: a case report

in Genetics of Common and Rare Diseases

Yuting Wen
Luo Yang
Gan Shen
Siyu Dai
Jing Wang
Xiang Wang

Frontiers in Pediatrics

doi 10.3389/fped.2023.1261318

716 views

Case Report

Published on 17 Nov 2023

A novel homozygous splice donor variant in the LRPPRC gene causing Leigh syndrome with epilepsy, a French-Canadian disorder in a Saudi family: case report

in Genetics of Common and Rare Diseases

Osama Y. Muthaffar
Angham Abdulrhman Abdulkareem
Abrar Ashi
Muhammad Imran Naseer

Frontiers in Pediatrics

doi 10.3389/fped.2023.1288542

638 views

Original Research

Published on 17 Oct 2023

NFIA haploinsufficiency: case series and literature review

in Genetics of Common and Rare Diseases

Gianluca Dini
Alberto Verrotti
Paolo Gorello
Luca Soliani
Duccio Maria Cordelli
Vincenzo Antona
Amedea Mencarelli
Davide Colavito
Paolo Prontera

Frontiers in Pediatrics

doi 10.3389/fped.2023.1292654

697 views

Case Report

Published on 13 Oct 2023

Case report: Suspecting guanine nucleotide-binding protein beta 1 mutation in dyskinetic cerebral palsy is important

in Genetics of Common and Rare Diseases

Han-Byeol Choi
Yoonju Na
Jiwon Lee
Jeehun Lee
Ja-Hyun Jang
Jong-Won Kim
Jeong-Yi Kwon

Frontiers in Pediatrics

doi 10.3389/fped.2023.1204360

828 views

Case Report

Published on 13 Oct 2023

Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis

in Genetics of Common and Rare Diseases

Linyan Zhu
Yixi Sun
Yuqing Xu
Pengzhen Jin
Huiqing Ding
Minyue Dong

Frontiers in Pediatrics

doi 10.3389/fped.2023.1273789

850 views

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Articles

Klippel–Trénaunay syndrome with profound abdominal lymphatic-venous malformation in a three-day-old newborn: a case report and literature review

Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series

Genetic outcomes in children with developmental language disorder: a systematic review

Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe Disease: A Systematic Review and metanalysis

Identification of a novel RPGR mutation associated with retinitis pigmentosa and primary ciliary dyskinesia in a Slovak family: a case report

An analysis of Pompe newborn screening data: a new prevalence at birth, insight and discussion

Generation and Characterization of a Zebrafish Gain-of-Function acox1 Mitchell Disease Model

Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia

Neuroimaging features of WOREE syndrome: a mini-review of the literature

Case Report: A new case of YARS1-associated autosomal recessive disorder with compound heterozygous and concurrent 47, XXY

Case report: Interleukin-17 targeted biological therapy in netherton syndrome

A novel splicing mutation identified in a DMD patient: a case report

A novel homozygous splice donor variant in the LRPPRC gene causing Leigh syndrome with epilepsy, a French-Canadian disorder in a Saudi family: case report

NFIA haploinsufficiency: case series and literature review

Case report: Suspecting guanine nucleotide-binding protein beta 1 mutation in dyskinetic cerebral palsy is important

Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis