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Article

Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity.

American journal of medical genetics. Part A - 15 Mar 2007

Ang Alan, Ung Tsiang, Puvanachandra Narman, Wilson Louise, Howard Frances, Ryalls Michael, Richards Allan, Meredith Sarah, Laidlaw Maureen, Poulson Arabella, Scott John, Snead Martin

Abstract excerpt

We describe the clinical findings in two patients with double heterozygosity, both involving Stickler syndrome. In case 1, the proposita had Albright hereditary osteodystrophy which was inherited from her mother and type 1 Stickler syndrome which was a new mutation. The combination of manifestations from the two syndromes had resulted in initial diagnostic confusion. Diagnosis of the latter syndrome was made only...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17318849
DOI: 10.1002/ajmg.a.31527

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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