Homozygous mutation in ABCA4 associated with cone rod dystrophy in a patient with Turner syndrome

PURPOSE: We report a special case of a patient who presented with two rare genetic diseases, Turner syndrome and cone-rod dystrophy (CRD), caused by mutation in the ABCA4 gene. METHODS: We present a case of a 12-year-old female with a progressive visual loss, poor night vision and short stature. We...

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Detalles Bibliográficos
Autores principales: Falfoul, Yousra, Habibi, Imen, Turki, Ahmed, Yakhlef, Achraf Ben, El Matri, Khaled, Chebil, Ahmed, Chaker, Nibrass, Schorderet, Daniel, Matri, Leila El
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Societe Tunisienne Des Sciences Medicales 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8715792/
https://www.ncbi.nlm.nih.gov/pubmed/33899203

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8715792/
https://www.ncbi.nlm.nih.gov/pubmed/33899203

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