Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment
Choroideremia (CHM) is a rare X-linked recessive retinal dystrophy characterized by progressive chorioretinal degeneration in the males affected. The symptoms include night blindness in childhood, progressive ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Anna Skorczyk-Werner, Anna Wawrocka, Natalia Kochalska and Maciej Robert Krawczynski Tags: Research Source Type: research
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