Review

Accepted on 06 Jun 2023

Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: A pediatric metabolic disease specialist’s perspective

Nur Arslan
Mahmut Coker
Gulden Fatma Gokcay
Ertugrul Kiykim
Halise Neslihan Onenli Mungan
Fatih Suheyl Ezgu

Frontiers in Pediatrics

doi 10.3389/fped.2023.1113422

Review

Accepted on 06 Jun 2023

Candidate genes for obstructive sleep apnea in non-syndromic children with craniofacial dysmorphisms – a narrative review

Zuzana Marincak Vrankova
Jan Krivanek
Zdenek Danek
Jiri Zelinka
Alena Brysova
Lydie Izakovicova Holla
James Kennedy Hartsfield
Petra Borilova Linhartova

Frontiers in Pediatrics

doi 10.3389/fped.2023.1117493

Original Research

Accepted on 05 Jun 2023

Outcomes after HSCT for mucolipidosis II (I-cell disease) caused by novel compound heterozygous GNPTAB mutations

Si-jia He
Dong-jun Li
Wen-Qiong Lv
Wen-Hao Tang
Shu-Wen Sun
Yi-Ping Zhu
Yin Liu
Jin Wu
Xiao-Xi Lu

Frontiers in Pediatrics

doi 10.3389/fped.2023.1199489

Original Research

Accepted on 05 Jun 2023

Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene

Yuqing Xu
Linyan Zhu
Yeqing Qian
Minyue Dong

Frontiers in Pediatrics

doi 10.3389/fped.2023.1191068

Original Research

Published on 30 May 2023

Association of IL-4 and IL-18 genetic polymorphisms with atopic dermatitis in Chinese children

Jianrong Shi
Lin He
Huiwen Zheng
Wei Li
Shuangshuang Huang
Yunling Li
Ran Tao

Frontiers in Pediatrics

doi 10.3389/fped.2023.1202100

504 views

Case Report

Published on 25 May 2023

A novel pathogenic variant of DNMT3A associated with craniosynostosis: a case report of Heyn–Sproul–Jackson syndrome

Ga Hye Kim
Jaewon Kim
Jaewoong Lee
Dae-Hyun Jang

Frontiers in Pediatrics

doi 10.3389/fped.2023.1165638

963 views

Original Research

Published on 25 May 2023

Association between air pollutants and birth defects in Xiamen, China

Zhimeng Huang
Yue Qiu
Jiawen Qi
Xiaohui Ma
Qiliang Cheng
Jinzhun Wu

Frontiers in Pediatrics

doi 10.3389/fped.2023.1132885

968 views

Case Report

Accepted on 22 May 2023

A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome

Qi Yang
Di Gong
Shang Yi
Jingsi Luo
Qinle Zhang

Frontiers in Pediatrics

doi 10.3389/fped.2023.1064783

Review

Published on 22 May 2023

A quest for genetic causes underlying signaling pathways associated with neural tube defects

Sunil Rai
Larissa Leydier
Shivani Sharma
Jigar Katwala
Anurag Sahu

Frontiers in Pediatrics

doi 10.3389/fped.2023.1126209

426 views

Case Report

Published on 19 May 2023

Case report: “Major fetal cardiac pathology associated with a novel CTNND1 mutation”

Xuliang Zhao
Xu Li
Weiwei Sun
Zhuojun Wei
Min Yu
Man Zhang
Ruixia Tian

Frontiers in Pediatrics

doi 10.3389/fped.2023.1180381

290 views

Original Research

Published on 19 May 2023

A holistic approach to maximise diagnostic output in trio exome sequencing

Sandra von Hardenberg
Hannah Wallaschek
Chen Du
Gunnar Schmidt
Bernd Auber

Frontiers in Pediatrics

doi 10.3389/fped.2023.1183891

710 views

Original Research

Accepted on 15 May 2023

Beyond the known phenotype of Sotos Syndrome: a 31-individuals cohort study

Lourdes Vega Hanna
Mario Sanz Cuesta
Didac Casas Alba
Mercè Bolasell
Loreto Martorell
Leticia Pías
Ana Lucía Feller
Antonio Federico Martínez Monseny
Mercedes Serrano

Frontiers in Pediatrics

doi 10.3389/fped.2023.1184529

Original Research

Published on 10 May 2023

Analysis and comparisons of gene expression changes in patient- derived neurons from ROHHAD, CCHS, and PWS

A. Kaitlyn Victor
Tayler Hedgecock
Martin Donaldson
Daniel Johnson
Casey M. Rand
Debra E. Weese-Mayer
Lawrence T. Reiter

Frontiers in Pediatrics

doi 10.3389/fped.2023.1090084

405 views

Case Report

Published on 05 May 2023

Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder

Cui-Jie Wei
Yi-Dan Liu
Yan-Ling Yang
Yuan Wu
Jie-Yu Liu
Xing-Zhi Chang
Ying Hua
Yu-He Liu
Hui Xiong

Frontiers in Pediatrics

doi 10.3389/fped.2023.1160107

593 views

Case Report

Published on 05 May 2023

Multimodal optical imaging and genetic features of AB variant GM2 gangliosidosis: a case report

Qin Chen
Fang Lu

Frontiers in Pediatrics

doi 10.3389/fped.2023.1147836

1,122 views

Original Research

Published on 24 Apr 2023

A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis

Xia Wang
Yingcan Wang
Ting Xu
Yanjie Fan
Yifeng Ding
Jihong Qian

Frontiers in Pediatrics

doi 10.3389/fped.2023.978879

579 views

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Articles

Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: A pediatric metabolic disease specialist’s perspective

Candidate genes for obstructive sleep apnea in non-syndromic children with craniofacial dysmorphisms – a narrative review

Outcomes after HSCT for mucolipidosis II (I-cell disease) caused by novel compound heterozygous GNPTAB mutations

Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene

Association of IL-4 and IL-18 genetic polymorphisms with atopic dermatitis in Chinese children

A novel pathogenic variant of DNMT3A associated with craniosynostosis: a case report of Heyn–Sproul–Jackson syndrome

Association between air pollutants and birth defects in Xiamen, China

A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome

A quest for genetic causes underlying signaling pathways associated with neural tube defects

Case report: “Major fetal cardiac pathology associated with a novel CTNND1 mutation”

A holistic approach to maximise diagnostic output in trio exome sequencing

Beyond the known phenotype of Sotos Syndrome: a 31-individuals cohort study

Analysis and comparisons of gene expression changes in patient- derived neurons from ROHHAD, CCHS, and PWS

Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder

Multimodal optical imaging and genetic features of AB variant GM2 gangliosidosis: a case report

A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis