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

[Genetic analysis of a child with pachygyria due to variant of ADGRG1 gen].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Sept 2024

Song Chuanlu, Su Jingyu

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child with pachygyria. METHODS: A proband who had visited Qinzhou Maternal and Child Health Care Hospital for pachygyria and mental retardation in June 2020 was selected as the study subject. Clinical data was collected. The child was subjected to whole exome sequencing (WES), and candidate variant was verified by Sanger sequencing. RESULTS: The proband, a...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Exome Sequencing
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Heterozygote

Share to Intellectual Disability

Share to Lissencephaly

Share to Pedigree

Source

Identifiers

PMID: 39217491
DOI: 10.3760/cma.j.cn511374-20230829-00096

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Genetic analysis of a child with pachygyria due to variant of ADGRG1 gen].PMID 39217491Read ↗

[Analysis of a child with SPONASTRIME dysplasia due to compound heterozygous variants of TONSL gene].Semantic proximity Read ↗

[Genetic analysis of a child with Multiple congenital anomalies-hypotonia-seizures syndrome 1 due to variant of PIGN gene].Semantic proximity Read ↗

[Analysis of PNPLA1 gene mutation in a child with ichthyosis].Semantic proximity Read ↗

[Clinical and genetic analysis of a child with Canavan disease due to compound heterozygous variants of ASPA gene].Semantic proximity Read ↗

[Clinical phenotype and genetic analysis of a child with CAKUTHED syndrome due to variant of PBX1 gene].Semantic proximity Read ↗

[Genetic analysis of a child with autosomal recessive primary microcephaly due to variant of ASPM gene and a literature review].Semantic proximity Read ↗

[Clinical phenotype and genetic analysis of a child featuring short stature and multiple skeletal dysplasia].Semantic proximity Read ↗

[Analysis of a child with DIGFAN syndrome due to variant of MORC2 gene].Semantic proximity Read ↗

[Genetic analysis of a child with Malan syndrome].Semantic proximity Read ↗

[Analysis of genetic variants in a child with Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism without seizures].Semantic proximity Read ↗

[Clinical and genetic analysis of a child with Alazami syndrome due to compound heterozygous variants of LARP7 gene].Semantic proximity Read ↗

[Clinical phenotype and genetic analysis of six Chinese patients affected with Acromicric dysplasia due to variants of FBN1 gene].Semantic proximity Read ↗

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