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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.
  • 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 en En | MEDLINE | ID: mdl-37903629
ABSTRACT
A novel homozygous variant in KIFBP was identified in a consanguineous family with four sibs affected by Goldberg-Sphrintzen Syndrome (GOSHS). We report for the first time, early-adulthood-onset progressive ataxia, opthalmoparesis, and hypogonadotropic hypogonadism in GOSHS.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Degeneraciones Espinocerebelosas / Ataxia Cerebelosa / Oftalmoplejía / Hipogonadismo Límite: Adult / Humans Idioma: En Año: 2024 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Degeneraciones Espinocerebelosas / Ataxia Cerebelosa / Oftalmoplejía / Hipogonadismo Límite: Adult / Humans Idioma: En Año: 2024 Tipo del documento: Article