白化病伴出血素质：赫尔曼斯基-普德拉克综合征。
Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome.
作者信息
Kinnear P E, Tuddenham E G
出版信息
Br J Ophthalmol. 1985 Dec;69(12):904-8. doi: 10.1136/bjo.69.12.904.
Abstract
Four cases of albinism with haemorrhagic diathesis (Hermansky-Pudlak syndrome) are presented. The cases displayed wide phenotypic variation. Electroretinography was performed on all four patients and was found to be normal. One patient developed a cutaneous malignant melanoma.
摘要
本文报告了4例伴有出血素质的白化病（Hermansky-Pudlak综合征）病例。这些病例表现出广泛的表型变异。对所有4例患者均进行了视网膜电图检查，结果发现均正常。其中1例患者发生了皮肤恶性黑色素瘤。
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