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

Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene.

Clinical dysmorphology - 1 Apr 2018

Matuszewska Karolina E, Badura-Stronka Magdalena, Śmigiel Robert, Cabała Magdalena, Biernacka Anna, Kosinska Joanna, Rydzanicz Malgorzata, Winczewska-Wiktor Anna, Sasiadek Maria, Latos-Bieleńska Anna, Żemojtel Tomasz, Płoski Rafal

Abstract excerpt

No abstract is available from the source.

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 Craniofacial Dysostosis
Share to Diagnosis, Differential

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Infant

Share to Karyotype

Share to Micrognathism

Share to Proteins

Source

Identifiers

PMID: 29389715
DOI: 10.1097/MCD.0000000000000212

Genes

MAGEL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene.PMID 29389715Read ↗

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

Phenotypic spectrum and mechanism analysis of Schaff Yang syndrome: A case report on new mutation of MAGEL2 gene.Semantic proximity Read ↗

Clinical phenotypes of MAGEL2 mutations and deletions.Semantic proximity Read ↗

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.Semantic proximity Read ↗

[Aarskog-Scott syndrome].Semantic proximity Read ↗

[Clinical characteristics and genetic analysis of a case of infantile Schaaf-Yang syndrome due to a heterozygous variant of MAGEL2 gene].Semantic proximity Read ↗

Subcellular localization of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndromeSemantic proximity Read ↗

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf-Yang Syndrome and the Importance of Paternal Allele Confirmation.Semantic proximity Read ↗

Werner syndrome: molecular genetics and mechanistic hypotheses.Semantic proximity Read ↗

Deletion of the last exon of SHANK3 gene produces the full Phelan-McDermid phenotype: a case report.Semantic proximity Read ↗

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.Semantic proximity Read ↗

Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.Semantic proximity Read ↗

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