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Article

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

8 Sept 2014

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 25240749
DOI: 10.1016/j.ymgme.2014.09.001

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Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencingPMID 25240749Read ↗

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Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report.Semantic proximity Read ↗

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

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patientsSemantic proximity Read ↗

A Novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I.Semantic proximity Read ↗

Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler Syndrome type I.Semantic proximity Read ↗

Stickler syndrome type 2 and linkage to the COL11A1 gene.Semantic proximity Read ↗

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