Stickler syndrome associated with epilepsy: report of three cases.

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

P2860

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Stickler syndrome associated with epilepsy: report of three cases.

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2015 nî lūn-bûn

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2015年学术文章

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Stickler syndrome associated with epilepsy: report of three cases.

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Stickler syndrome associated with epilepsy: report of three cases.

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Stickler syndrome associated with epilepsy: report of three cases.

@en

Stickler syndrome associated with epilepsy: report of three cases.

@nl

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Stickler syndrome associated with epilepsy: report of three cases.

@en

Stickler syndrome associated with epilepsy: report of three cases.

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P1476

Stickler syndrome associated with epilepsy: report of three cases

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Alberto Verrotti

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Daniela Laino

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Lucio Lobefalo

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Maria Valentina Spartà

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Thomas Foiadelli

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P2860

The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.

Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation.

Hearing impairment in Stickler syndrome: a systematic review.

Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).

Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome.

Clinical phenotypes associated with type II collagen mutations.

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

Microcephaly associated with Legg-Calvè-Perthes disease in two siblings.

Type II collagen gene variants and inherited osteonecrosis of the femoral head.

Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms.

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s00431-015-2514-8

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697-701

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scholarly article

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10.1007/S00431-015-2514-8

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P433

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P478

174

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Vincenzo Salpietro

Gian Luigi Marseglia

Salvatore Savasta

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2015-03-27T00:00:00Z

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274092478

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25809783

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Stickler syndrome associated with epilepsy: report of three cases.

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P2860

P2860

Stickler syndrome associated with epilepsy: report of three cases.

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type

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P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P698