Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Report of new variants in PPIL1 underlying type 14 pontocerebellar hypoplasia and their associated phenotypic manifestations in two fetuses.

American journal of medical genetics. Part A - 1 Aug 2023

Zhang Yuxin, Yan Lulu, Xie Min, Xue Jiangyang, Yang Xumian, Xue Yongming, Tian Liyun, Li Haibo

Abstract excerpt

Mutations in the PPIL1 gene have been linked to type 14 pontocerebellar hypoplasia (PCH14); however, prenatal clinical characteristics of PCH14 caused by mutations in the PPIL1 gene have not been reported. This study reports the first prenatal case of PCH14 diagnosed by whole-exome sequencing (WES). Two fetuses with severe microcephaly and cerebral dysplasia, along with their parents, underwent WES. The effects...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cerebellar Diseases
Share to Fetus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Mutation

Share to Peptidylprolyl Isomerase

Share to Pregnancy

Source

Identifiers

PMID: 37159429
DOI: 10.1002/ajmg.a.63238

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Report of new variants in PPIL1 underlying type 14 pontocerebellar hypoplasia and their associated phenotypic manifestations in two fetuses.PMID 37159429Read ↗

Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.Semantic proximity Read ↗

Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.Semantic proximity Read ↗

Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.Semantic proximity Read ↗

A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C.Semantic proximity Read ↗

MINPP1 -Related Pontocerebellar Hypoplasia in Five New Patients: Identification of Three Novel Variants and Further Phenotype Delineation.Semantic proximity Read ↗

Prenatal phenotype of <i>PNKP</i>-related primary microcephaly associated with variants in the FHA and Phosphatase domainSemantic proximity Read ↗

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.Semantic proximity Read ↗

Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.Semantic proximity Read ↗

Novel compound heterozygous variants in the STIL gene identified in a Chinese family with presentation of foetal microcephaly.Semantic proximity Read ↗

Novel compound heterozygous missense variants in TOE1 gene associated with pontocerebellar hypoplasia type 7.Semantic proximity Read ↗

Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience.Semantic proximity Read ↗

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.