Article
Homozygous mutation in ABCA4 associated with cone rod dystrophy in a patient with Turner syndrome.
La Tunisie medicale - 1 Feb 2021
Falfoul Yousra, Habibi Imen, Turki Ahmed, Ben Yakhlef Achraf, El Matri Khaled, Chebil Ahmed, Chaker Nibrass, Schorderet Daniel, El Matri Leila
Abstract excerpt
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 performed a clinical, karyotype of peripheral blood and molecular genetic study. DNA sample from the index patient...
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