Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.

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Phenotypic characterization of patients with early-onset high myopia due to mutations in or : Why not Stickler syndrome?

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Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.

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Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.

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Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.

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Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.

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Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.

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Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.

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Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.

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P1476

Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.

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Els M R De Leenheer

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Frederic R Acke

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Freya K Swinnen

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Ingeborg J Dhooge

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P2860

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

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

Auditory dysfunction in Stickler syndrome

A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies

Hearing impairment in Stickler syndrome: a systematic review.

Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.

Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

Effects of age on the distortion product otoacoustic emission growth functions.

Col11a1 and Col11a2 mRNA expression in the developing mouse cochlea: implications for the correlation of hearing loss phenotype with mutant type XI collagen genotype.

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s00405-016-3896-6

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scholarly article

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10.1007/S00405-016-3896-6

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273

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Fransiska Malfait

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2016-01-19T00:00:00Z

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1017860086

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Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.

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P2860

P2860

Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.

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P1433

P1476

P2093

P2860

P2888

P304

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P356

P433

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P6179

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P6179

P698