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Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene.
Ooi, Joshua Chin Ern; Azman, Amelia; Chan, Mei-Yan; Toh, Emilia Sheau Yuin; Seo, Go Hun; Kim, Ji Hye; Yakob, Yusnita; Chia, Yuen Kang.
Afiliação
  • Ooi JCE; Neurology Unit, Queen Elizabeth Hospital, Kota Kinabalu, Malaysia.
  • Azman A; Molecular Diagnostics Unit, Institute for Medical Research, Kuala Lumpur, Malaysia.
  • Chan MY; Genetics Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
  • Toh ESY; Neurology Unit, Queen Elizabeth Hospital, Kota Kinabalu, Malaysia.
  • Seo GH; 3billion Inc., Seoul, South Korea.
  • Kim JH; 3billion Inc., Seoul, South Korea.
  • Yakob Y; Molecular Diagnostics Unit, Institute for Medical Research, Kuala Lumpur, Malaysia.
  • Chia YK; Neurology Unit, Queen Elizabeth Hospital, Kota Kinabalu, Malaysia.
Clin Genet ; 105(2): 228-230, 2024 02.
Article em En | MEDLINE | ID: mdl-37903629
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Degenerações Espinocerebelares / Ataxia Cerebelar / Oftalmoplegia / Hipogonadismo Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Degenerações Espinocerebelares / Ataxia Cerebelar / Oftalmoplegia / Hipogonadismo Idioma: En Ano de publicação: 2024 Tipo de documento: Article