Association of clinical and genetic heterogeneity with BEST1 sequence variations

<strong>Importance </strong> Detailed phenotypic information on the spectrum of fundus abnormalities and clinical variability of all phenotypes associated with sequence variations in BEST1 is limited. <br> <strong>Objective </strong> To report a detailed phenotypic an...

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Bibliografische gegevens
Hoofdauteurs: Shah, M, Broadgate, S, Shanks, M, Clouston, P, Yu, J, MacLaren, RE, Németh, AH, Halford, S, Downes, SM
Formaat: Journal article
Taal:English
Gepubliceerd in: American Medical Association 2020