نتایج جستجو برای: griscelli syndrome

تعداد نتایج: 621919  

Journal: :Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2015
Mazhar Ishaq Muhammad Khizar Niazi Muhammad Saim Khan Yasser Nadeem

Albinism is an inherited abnormality of melanin synthesis with incidence of one per 20,000 births. Its clinical manifestations are related to the reduction or absence of pigmentation in the visual system and/or the skin and teguments. The clinical spectrum of Oculocutaneous Albinism (OCA) has four types ranging from OCA 1 - 4, of which OCA 1, A-1 is the most severe form. Partial cutaneous albin...

2017
Justin Finch Stephanie Abrams Amy Finch

Genetic skin diseases encompass a vast, complex, and ever expanding field. Recognition of the features of these diseases is important to ascertain a correct diagnosis, initiate treatment, consider genetic counseling, and refer patients to specialists when the disease may impact other areas. Because genodermatoses may present with a vast array of features, it can be bewildering to memorize them....

Journal: :Turkish Journal of Anesthesia and Reanimation 2014

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