Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004135 (ATM)
 13,001 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Phakomatoses are congenital diseases characterized by several neoformations affecting tissues originated from ectoderm. The most typical ophthalmic affection is the retinal hamartoma: it can be of angiomatous (Von Hippel-Lindau's Syndrome, Sturge-Weber's Disease) or neuroglioblastic type (Von Recklinghausen's Disease, Bourneville's Disease). In addition to the above-mentioned ones, some include among phakomatoses other diseases such as Louis-Bar's Syndrome, Rendu-Osler's Syndrome and, recently, Gorlin-Goltz's Syndrome. Authors present the case of a young girl, who in addition to the typical G-G's Syndrome osteo-cutaneous features was affected by retinal lesions of hamartomatous type. Photographic documents are displayed.
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PMID:[The Gorlin-Goltz 5th phakomatosis: ophthalmological aspects of a case]. 374 93