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

1,213 views

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

1,412 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

3,319 views
2 citations

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

4,517 views
2 citations

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

2,181 views
1 citation

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

2,061 views
1 citation

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

2,340 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

1,995 views
1 citation

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

1,747 views
1 citation

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

1,623 views
1 citation

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

2,260 views
2 citations

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

1,491 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

1,550 views
3 citations

Original Research

Published on 09 Oct 2023

Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy

in Genetics of Common and Rare Diseases

Tayyaba Afsar
Xiaoyun Huang
Abid Ali Shah
Safdar Abbas
Shazia Bano
Arif Mahmood
Junjian Hu
Suhail Razak
Muhammad Umair

Frontiers in Pediatrics

doi 10.3389/fped.2023.1266376

3,189 views

Original Research

Published on 18 Sep 2023

Developing a cluster-based approach for deciphering complexity in individuals with neurodevelopmental differences

in Genetics of Common and Rare Diseases

Tania Cuppens
Manpreet Kaur
Ajay A. Kumar
Julie Shatto
Andy Cheuk-Him Ng
Mickael Leclercq
Marek Z. Reformat
Arnaud Droit
Ian Dunham
François V. Bolduc

Frontiers in Pediatrics

doi 10.3389/fped.2023.1171920

1,632 views

Case Report

Published on 13 Sep 2023

Case report: Novel insights into hemorrhagic destruction of the brain, subependymal calcification, and cataracts disease

in Genetics of Common and Rare Diseases

Tameemi Abdallah Moady
Marwan Odeh
Ayalla Fedida
Zvi Segal
Maayan Gruber
Moshe Goldfeld
Limor Kalfon
Tzipora C. Falik-Zaccai

Frontiers in Pediatrics

doi 10.3389/fped.2023.1178280

1,715 views
1 citation

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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

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

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

Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy

Developing a cluster-based approach for deciphering complexity in individuals with neurodevelopmental differences

Case report: Novel insights into hemorrhagic destruction of the brain, subependymal calcification, and cataracts disease