[Pontocerebellar hypoplasia type 2D caused by compound heterozygous variants in the SEPSECS gene: A case report and literature review].

Compound heterozygous variants in the SEPSECS gene probably underlay the pathogenesis of PCH2D in this child. Above finding has expanded the mutational and phenotypic spectrum of the SEPSECS gene.

Authors

Xiaoke Zhao
Ling Zhang (ORCID: https://orcid.org/0000-0001-7641-7839)
Xiaoyan Xuan

Institutions

Nanjing Children's Hospital (CN)
Second Affiliated Hospital of Nanjing Medical University (CN)

Publication Details

Journal: PubMed
Published: 2025-08-10
DOI: https://doi.org/10.3760/cma.j.cn511374-20241015-00536
Primary Topic: Fetal and Pediatric Neurological Disorders
Type: article
Field-Weighted Citation Impact: 0.00

Controls

|||

ALL TIME

JAN

FEB

MAR

APR

MAY

JUN

JUL

AUG

SEP

OCT

article

[Pontocerebellar hypoplasia type 2D caused by compound heterozygous variants in the SEPSECS gene: A case report and literature review].

Xiaoke Zhao, Ling Zhang, Xiaoyan Xuan

Aug 10, 2025

PubMed

Fetal and Pediatric Neurological Disorders

article

[Pontocerebellar hypoplasia type 2D caused by compound heterozygous variants in the SEPSECS gene: A case report and literature review].

Xiaoke Zhao, Ling Zhang, Xiaoyan Xuan

August 10, 2025article en

Abstract

Compound heterozygous variants in the SEPSECS gene probably underlay the pathogenesis of PCH2D in this child. Above finding has expanded the mutational and phenotypic spectrum of the SEPSECS gene.

PubMedVol. 42(8)

Nanjing Children's Hospital (CN), Second Affiliated Hospital of Nanjing Medical University (CN)

Openalex Percentile: Top 59%

Fetal and Pediatric Neurological Disorders

DOI Source OpenAlex

AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.

[Pontocerebellar hypoplasia type 2D caused by compound heterozygous variants in the SEPSECS gene: A case report and literature review]. — Xiaoke Zhao, Ling Zhang, et al. · PubMed (2025) | TGRS Research Map | TGRS