Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature

Samankaltaisia teoksia

• A Report of a Novel Pathogenic Variant in a Family with Buschke–Ollendorf Syndrome
  Tekijä: Jain, Angita, et al.
  Julkaistu: (2020)
• Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene
  Tekijä: Melkoniemi, MiiaÂ, et al.
  Julkaistu: (2000)
• Novel Pathogenic Variant in the Cys110 Residue: A Genotype–Phenotype Report of a Patient with Norrie Disease
  Tekijä: Garcha, Jaspreet, et al.
  Julkaistu: (2020)
• AUDIOLOGICAL FINDINGS IN OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA (OSMED) ASSOCIATED WITH A NOVEL MUTATION IN COL11A2
  Tekijä: Tokgöz-Yilmaz, Suna, et al.
  Julkaistu: (2011)
• Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia
  Tekijä: Al Kaissi, Ali, et al.
  Julkaistu: (2005)