Case Report

Published on 14 Jan 2025

Case Report: Prenatal diagnosis of novel compound heterozygous variants in WDR35 gene causing short-rib thoracic dysplasia 7 with or without polydactyly

in Genetics of Common and Rare Diseases

Jianlong Zhuang
Junyu Wang
Zhengping Huang
Yu’e Chen
Chunnuan Chen

Frontiers in Pediatrics

doi 10.3389/fped.2024.1503455

157 views

Original Research

Published on 13 Jan 2025

Biochemical characteristics, genetic variants and treatment outcomes of 55 Chinese cases with neonatal intrahepatic cholestasis caused by citrin deficiency

in Genetics of Common and Rare Diseases

Juan Li
Jintao Duan
Shuli He
Ying Li
Meifen Wang
Chengjun Deng

Frontiers in Pediatrics

doi 10.3389/fped.2024.1293356

Original Research

Published on 07 Jan 2025

Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome

in Genetics of Common and Rare Diseases

Fengyang Wang
Huijuan Peng
Guiyu Lou
Yanxin Ren
Shixiu Liao

Frontiers in Pediatrics

doi 10.3389/fped.2024.1504122

102 views

Case Report

Published on 06 Jan 2025

Case Report: Two years of compassionate use with Olipudase-alfa in a child with neurovisceral acid sphingomyelinase deficiency

in Genetics of Common and Rare Diseases

Federica Deodato
Sara Boenzi
Benedetta Greco
Alessia Graziosi
Carlo Dionisi-Vici

Frontiers in Pediatrics

doi 10.3389/fped.2024.1518344

289 views

Case Report

Accepted on 31 Dec 2024

SMARCA4-related Coffin-Siris Syndrome in newborn: a case report and literature review

in Genetics of Common and Rare Diseases

Yuqian Wang
Li Zhang
Jing Zhu
Liu Yang
Chan Wang
Ning Zou

Frontiers in Pediatrics

doi 10.3389/fped.2024.1493380

Original Research

Accepted on 30 Dec 2024

Genetic Screening Strategy for Children with Hereditary Spherocytosis in Jiangxi Province of China

in Genetics of Common and Rare Diseases

Chongjun Wu
Zhongjin Xu
Qian Wan
Feng Chen
Yao Ye
Hong Wang

Frontiers in Pediatrics

doi 10.3389/fped.2024.1487121

Case Report

Accepted on 26 Dec 2024

Case report: diagnosis and treatment of incontinentia pigmenti with central nervous system anomalies in one patient

in Genetics of Common and Rare Diseases

YUN LI
Junbin Hong
Shangge Xu
Tong Zhou
Xiaolan Xiao
Jinghua Yang
Yiting Chen

Frontiers in Pediatrics

doi 10.3389/fped.2024.1490816

Case Report

Published on 24 Dec 2024

Case Report: Prenatal ultrasound presentation of congenital melanocytic nevus syndrome

in Genetics of Common and Rare Diseases

ZhiH Shi
TingT Sun
Juan Yin
Shuo Qiu
YueM Wang
JunH Leng

Frontiers in Pediatrics

doi 10.3389/fped.2024.1466999

321 views

Case Report

Published on 24 Dec 2024

Cleft palate, congenital heart disease, and developmental delay involving MEIS2 heterozygous mutations found in the patient with attention deficit hyperactivity disorder: a case report

in Genetics of Common and Rare Diseases

Fang Shen
Junyan Li
Dandan Li
Hui Zhou

Frontiers in Pediatrics

doi 10.3389/fped.2024.1500152

335 views

Original Research

Published on 19 Dec 2024

A novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay

in Genetics of Common and Rare Diseases

Linyan Zhu
Rui Zhou
Lianxiao Zhang
Mei Chen
Shengmin Zhang
Xiaxi Huang
Yubo Shi
Huiqing Ding

Frontiers in Pediatrics

doi 10.3389/fped.2024.1505924

367 views

Case Report

Accepted on 18 Dec 2024

The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination

in Genetics of Common and Rare Diseases

Yoong-A Suh
Jisun Hwang
Go Hun Seo
Rin Khang
Jang Hoon Lee
Moon Sung Park
Young Bae Sohn

Frontiers in Pediatrics

doi 10.3389/fped.2024.1488095

Case Report

Published on 10 Dec 2024

Case Report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency

in Genetics of Common and Rare Diseases

Thi Thanh Ngan Nguyen
Nguyen Ngoc Khanh
Chi Dung Vu
Ngoc-Lan Nguyen
Van Khanh Tran
Nguyen Thi Kim Lien
Nguyen Van Tung
Nguyen Duc Quan
Nguyen Thanh Hien
Tran Thi Huong Giang

Frontiers in Pediatrics

doi 10.3389/fped.2024.1494604

528 views

Case Report

Published on 02 Dec 2024

A case report of PGAP2-related hyperphosphatasia with impaired intellectual development syndrome in a Chinese family and literature review

in Genetics of Common and Rare Diseases

Yijun Pan
Bin Ren
Lijuan Chen
Qiang Li

Frontiers in Pediatrics

doi 10.3389/fped.2024.1419976

428 views

Case Report

Published on 22 Nov 2024

Case Report: Exploring the clinical spectrum of LGMD R27: insights from a case study with homozygous pathogenic variant in the JAG2 gene

in Genetics of Common and Rare Diseases

Sergey Nikitin
Evgeniya Melnik
Inna Sharkova
Aysylu Murtazina
Olga Shchagina
Victoriia Zabnenkova
Vadim Tsargush
Elena Dadali
Sergey Kutsev

Frontiers in Pediatrics

doi 10.3389/fped.2024.1414465

382 views

Case Report

Published on 21 Nov 2024

Case Report: Expanded delineation of phenotype of TRPM3-related neurodevelopmental disorders

in Genetics of Common and Rare Diseases

Agnieszka Pawelak
Artur Polczyk
Ewelina Wolańska
Magdalena Kłaniewska
Mateusz Biela
Aleksander Basiak
Maria Franaszczyk
Małgorzata Rydzanicz
Rafał Płoski
Robert Śmigiel

Frontiers in Pediatrics

doi 10.3389/fped.2024.1435053

563 views

Case Report

Published on 31 Oct 2024

Case Report: New phenotype of late-onset Stüve–Wiedemann syndrome due to a C-terminal variant in the LIFR gene

in Genetics of Common and Rare Diseases

Evgenia Melnik
Margarita Sharova
Vladimir Kenis
Anna Morgul
Viktoria Zabnenkova
Tatiana Markova

Frontiers in Pediatrics

doi 10.3389/fped.2024.1442624

589 views

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Articles

Case Report: Prenatal diagnosis of novel compound heterozygous variants in WDR35 gene causing short-rib thoracic dysplasia 7 with or without polydactyly

Biochemical characteristics, genetic variants and treatment outcomes of 55 Chinese cases with neonatal intrahepatic cholestasis caused by citrin deficiency

Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome

Case Report: Two years of compassionate use with Olipudase-alfa in a child with neurovisceral acid sphingomyelinase deficiency

SMARCA4-related Coffin-Siris Syndrome in newborn: a case report and literature review

Genetic Screening Strategy for Children with Hereditary Spherocytosis in Jiangxi Province of China

Case report: diagnosis and treatment of incontinentia pigmenti with central nervous system anomalies in one patient

Case Report: Prenatal ultrasound presentation of congenital melanocytic nevus syndrome

Cleft palate, congenital heart disease, and developmental delay involving MEIS2 heterozygous mutations found in the patient with attention deficit hyperactivity disorder: a case report

A novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay

The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination

Case Report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency

A case report of PGAP2-related hyperphosphatasia with impaired intellectual development syndrome in a Chinese family and literature review

Case Report: Exploring the clinical spectrum of LGMD R27: insights from a case study with homozygous pathogenic variant in the JAG2 gene

Case Report: Expanded delineation of phenotype of TRPM3-related neurodevelopmental disorders

Case Report: New phenotype of late-onset Stüve–Wiedemann syndrome due to a C-terminal variant in the LIFR gene