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The following terms were not found in PubMed: outgrowth-lipomatosis-arteriovenous, malformation-epidermal
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Pathophysiology, diagnosis, and management of glaucoma associated with Sturge-Weber syndrome.
Javaid U, Ali MH, Jamal S, Butt NH. Javaid U, et al. Int Ophthalmol. 2018 Feb;38(1):409-416. doi: 10.1007/s10792-016-0412-3. Epub 2017 Jan 7. Int Ophthalmol. 2018. PMID: 28064423 Review.
PURPOSE: Sturge-Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a condition which includes leptomeningeal hemangioma, facial angiomatosis or nevus flammeus, and ocular changes. SWS can lead to severe complications of anterior segment …
PURPOSE: Sturge-Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a condition which includes leptomeningeal he …
Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.
Wicking C, Shanley S, Smyth I, Gillies S, Negus K, Graham S, Suthers G, Haites N, Edwards M, Wainwright B, Chenevix-Trench G. Wicking C, et al. Am J Hum Genet. 1997 Jan;60(1):21-6. Am J Hum Genet. 1997. PMID: 8981943 Free PMC article.
The human homologue of the Drosophila segment polarity gene patched is implicated in the development of nevoid basal cell carcinoma syndrome (NBCCS) and in the genesis of sporadic basal cell carcinomas. ...
The human homologue of the Drosophila segment polarity gene patched is implicated in the development of nevoid basal cell carcinoma …