Search Results 1-10 of 16627 for albinism
The term albinism usually refers to oculocutaneous (ok-u-low-ku-TAY-nee-us) albinism (OCA). OCA is a group of disorders passed down in families where the ...
Diagnosis of albinism is based on: A physical exam that includes checking skin and hair pigmentation. A thorough eye exam. Comparison of your child's ...
Disorders evaluated in our Dermatology Genetics Clinic include, among others: Albinism; Birthmarks; Carney complex; Cutaneous mosaicism; Cutis laxa ...
Albinism. · Birthmarks. · Carney complex. · Cowden syndrome. · Cutaneous mosaicism. · Cutis laxa. · Dyskeratosis congenita. · Ectodermal dysplasia.
... albinism. His only chance of survival was a double-lung transplant. No route to lung transplantation is easy. But Steve's journey, which began with ...
You also may have belly pain, fever, nausea, itching and yellowing of the skin and eyes, known as jaundice. Some babies are born with narrowed bile ducts. This ...
Inherited retinal diseases, such as achromatopsia, albinism, Bardet-Biedl Syndrome (BBS), Best disease, choroideremia, cone-rod dystrophies, familial ...
A 40-Year-Old Man With Albinism and Progressive Dyspnea. Chest. 2018 Nov; 154 (5):e143-e146. View PubMed; Bennett CE, Samavedam S, Jayaprakash N, Kogan A ...
PKU is caused by a change in the gene that helps create an enzyme needed to break down phenylalanine. Treatment includes a special diet and medication.
A clinician teams up with basic scientists to learn how toxic RNA short-circuits corneal cells. The eye's outermost tissue, the cornea, is a bit more ...
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