FBN1 and Goldberg-Shprintzen Syndrome: Association Evidence

At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Provenance

2 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

FBN1

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Goldberg-Shprintzen Syndrome

16 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Phenotype

99 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Mechanism overlap

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Literature

3 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Provenance

9 references

Every source and publication cited across this dossier, as one numbered reference list.