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

Discordant phenotypes in monozygotic twins with STXBP1 mutation: A case report.

Seizure - 1 Oct 2022

Kobayashi Hikaru, Matsushige Takeshi, Hoshide Madoka, Hidaka Ippei, Ichiyama Takashi, Kato Mitsuhiro, Miya Fuyuki, Hasegawa Shunji

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 Munc18 Proteins
Share to Mutation
Share to Phenotype
Share to Twins, Monozygotic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 35841834
DOI: 10.1016/j.seizure.2022.06.019

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

Discordant phenotypes in monozygotic twins with STXBP1 mutation: A case report.PMID 35841834Read ↗

STXBP1-Related Disorders: Clinical Presentation, Molecular Function, Treatment, and Future Directions.Semantic proximity Read ↗

Case Report: Integrating clinical presentation and genetic analysis in P450 oxidoreductase deficiency: a novel mutation and systematic review.Semantic proximity Read ↗

A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twinsSemantic proximity Read ↗

Severe SHOX gene haploinsufficiency in a girl with a novel mutation (M1T) involving the first codon of coding region.Semantic proximity Read ↗

Monozygotic twins with discordant karyotypes: a case reportSemantic proximity Read ↗

Studying ultra-rare variants in STX1A uncovers a novel neurodevelopmental disorder.Semantic proximity Read ↗

The clinical manifestations of two novel SPAST mutations.Semantic proximity Read ↗

Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China.Semantic proximity Read ↗

A novel SPTB gene mutation in neonatal hereditary spherocytosis: a case report and literature reviewSemantic proximity Read ↗

Uncommon S-s-U+ phenotype encoded by two novel GYPB alleles.Semantic proximity Read ↗

Different phenotypic expression of Fabry disease in female monozygotic twins.Semantic proximity Read ↗

Waardenburg syndrome: variable phenotypic expression in monozygotic twins.Semantic proximity Read ↗

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