AUDIOLOGICAL FINDINGS IN OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA (OSMED) ASSOCIATED WITH A NOVEL MUTATION IN COL11A2

Ítems similars

• Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene
  per: Melkoniemi, MiiaÂ, et al.
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• Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia
  per: Micale, Lucia, et al.
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• Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature
  per: Selvam, Pavalan, et al.
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• Spatial Hearing Questionnaire: Psychometric Properties of Turkish Version and Correlations with Hearing Skills
  per: Bünyamin ÇILDIR, et al.
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• Otologic and audiologic findings in 22q11.2 deletion syndrome
  per: Verheij, E., et al.
  Publicat: (2016)