Widening the Spectrum of Disease Expression due to Heterozygous Variants in EFEMP1.

چکیده

Doyne honeycomb retinal dystrophy or malattia leventinese (DHRD/ML) is an autosomal dominant retinal disorder caused by a single recurrent p.Arg345Trp (NM_001039348.3:c.1033C>T) variant in EFEMP1 and characterized by early-onset, nearly confluent, large central retinal drusen. Other variants in…

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موضوعات مرتبط

• تصویربرداری و تشخیص