Frontiers in Pediatrics | Genetics of Common and Rare Diseases

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

906 views

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

621 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

1,396 views
2 citations

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

710 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

6,107 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

811 views

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

1,174 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

824 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

769 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

1,137 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

1,041 views

Case Report

Published on 16 Oct 2024

45,X[2]/46,X,der(Y).ish Psu idic(Y)(q11.2)[38] mosaic karyotype in mixed gonadal dysgenesis: a case report and literature review

in Genetics of Common and Rare Diseases

Qiang Zhang
Xiaoxiao Chen
Yanyan Cao
Yun Zhou
Yingye Liu
Lijun Liu
Lei Liu
Xiaowei Cui

Frontiers in Pediatrics

doi 10.3389/fped.2024.1460174

1,274 views

Original Research

Published on 08 Oct 2024

The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China

in Genetics of Common and Rare Diseases

Guihua Lai
Qiying Gu
Zhiyong Lai
Haijun Chen
Junkun Chen
Jungao Huang

Frontiers in Pediatrics

doi 10.3389/fped.2024.1448895

1,385 views

Case Report

Published on 02 Oct 2024

WWOX-related epileptic encephalopathy caused by a novel mutation in the WWOX gene: a case report

in Genetics of Common and Rare Diseases

Dan Feng
Ye Li
Ya-Ting Zhang
Yan-Jun Song
Dong-Yuan Qin
Fan Wang

Frontiers in Pediatrics

doi 10.3389/fped.2024.1453778

1,405 views

Original Research

Published on 27 Sep 2024

The Spectrum of clinical manifestations in newborns with the COQ4 mutation: case series and literature review

in Genetics of Common and Rare Diseases

Pianpian Pan
Na Zhou
Yi Sun
Zhengrong Chen
Jin Han
Wei Zhou

Frontiers in Pediatrics

doi 10.3389/fped.2024.1410133

1,378 views

Case Report

Published on 25 Sep 2024

Case Report: MDFIC gene mutation resulting in central conducting lymphatic anomaly facilitates group A Streptococcus sepsis

in Genetics of Common and Rare Diseases

Johannes Weidner
Kai Fiedler
Mechthild Schulze-Becking
Christiaan Peter Sentner
Christoph Korenke
Axel Heep

Frontiers in Pediatrics

doi 10.3389/fped.2024.1367532

959 views