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Article

Marshall syndrome.

American journal of medical genetics - 1 Oct 1991

Stratton R F, Lee B, Ramirez F

Abstract excerpt

We report on a mother and daughter with Marshall syndrome, with the Robin sequence present in the daughter. Results of our efforts to link this syndrome to a defect in type II collagen are reported. We compare and contrast Marshall syndrome with the Stickler syndrome, and propose that enough phen...

Topics

Abnormalities, Multiple
Collagen
Deafness
Female
Genes, Dominant
Humans
Infant, Newborn
Male
Pedigree
Phenotype
Pierre Robin Syndrome
Polyhydramnios
Retinal Degeneration

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Syndrome

Source

Identifiers

PMID: 1951461
DOI: 10.1002/ajmg.1320410111

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1951461-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Marshall syndrome.PMID 1951461Read ↗

Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.Semantic proximity Read ↗

Distinguishing Marshall from Stickler syndrome: a clinical and genetic challenge.Semantic proximity Read ↗

Marshall syndrome associated with a splicing defect at the COL11A1 locus.Semantic proximity Read ↗

[Marshall syndrome: Clinical, radiological and genetical features of a Tunisian family].Semantic proximity Read ↗

Robin sequences and complexes: Causal heterogeneity and pathogenetic/phenotypic variabilitySemantic proximity Read ↗

Stickler Syndrome.Semantic proximity Read ↗

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.Semantic proximity Read ↗

Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrumSemantic proximity Read ↗

Clinical and molecular genetics of Stickler syndromeSemantic proximity Read ↗

A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.Semantic proximity Read ↗

Vitreous phenotype: genotype correlation in Stickler syndrome.Semantic proximity Read ↗

Neonatal Marshall-Smith syndrome.Semantic proximity Read ↗

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