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

[Analysis of phenotype and genetic variant in a family with Shprintzen-Goldberg syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2022

Shi Jiamin, Sun Junhui, Chen Yuan, Zhu Mianmian, Wang Qiu, Lu Chaosheng, Wang Dan

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a proband with Shprintzen-Goldberg syndrome (SGS). METHODS: Whole exome sequencing was carried out to detect potential variants associated with the relevant phenotypes. Candidate variants were verified by Sanger sequencing of the patient and her family. RESULTS: DNA sequencing revealed that that the proband has carried a de novo heterozygous missense c.94C>G...

Read the complete abstract on PubMed

Topics

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

Share to Craniosynostoses
Share to Marfan Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 35810425
DOI: 10.3760/cma.j.cn511374-20210315-00224

Genes

SKI

Variants

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

[Analysis of phenotype and genetic variant in a family with Shprintzen-Goldberg syndrome].PMID 35810425Read ↗

Molecular pathology of Shprintzen-Goldberg syndrome.Semantic proximity Read ↗

[Clinical and genetic analysis of a child with Schaaf-Yang syndrome].Semantic proximity Read ↗

Exploring the Cognitive and Behavioral Aspects of Shprintzen-Goldberg Syndrome; a Novel Cohort and Literature Review.Semantic proximity Read ↗

[Phelan-McDermid syndrome associated with a novel heterozygous mutation in the SHANK3 gene].Semantic proximity Read ↗

[Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene].Semantic proximity Read ↗

[Identification of pathological variants of SLC12A3 gene in a pedigree affected with Gitelman syndrome].Semantic proximity Read ↗

[Analysis of PI4KA gene variants in a patient with Hereditary spastic paraplegia type 84].Semantic proximity Read ↗

[Genetic analysis of three patients with Kleefstra syndrome].Semantic proximity Read ↗

[Analysis of phenotype and CYP4V2 gene variants in two pedigrees affected with Bietti crystalline corneoretinal dystrophy].Semantic proximity Read ↗

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.Semantic proximity Read ↗

De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.Semantic proximity Read ↗

Goldberg-Shprintzen syndrome: report of a new family and review of the literature.Semantic proximity Read ↗

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