Ermine phenotype
WebNov 15, 2004 · Ermine phenotype has a distinct clinical presentation compared to other syndromes associated with abnormal pigment and deafness and should be included as an independent condition in the differential diagnosis. Expand. View 2 excerpts, cites background; Save. Alert. Albinism -and Other Genetic Disorders of Pigmentation. WebFeatures in newborns with BADS include white hair, eyebrows, and eyelashes (ermine-like camouflage), some black locks, and depigmented skin with some brown spots. Other …
Ermine phenotype
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Weberm gene (ŭrm) [Acronym fm. erythromycin ribosomal methylase] A gene that promotes methylation of ribosomal RNA and other intracellular molecules. It is responsible for bacterial resistance to antibiotics such as the macrolides, lincosamides, and streptogramins. Medical Dictionary, © 2009 Farlex and Partners Want to thank TFD for its existence? WebAbout Ermine phenotype. Many rare diseases have limited information. Currently GARD aims to provide the following information for this disease: Population Estimate: Fewer than 1,000 people in the U.S. have this disease. Symptoms: May start to appear as a …
WebErmine phenotype - Living with the Disease - Genetic and Rare Diseases Information Center National Center for Advancing Translational Sciences Browse by Disease About GARD Contact Us We recently launched the new GARD website and are still developing specific pages. This page is currently unavailable. WebCutaneous albinism-ermine phenotype is characterised by the association of white hair with black tufts, depigmented skin and sensorineural deafness. It has been described in …
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WebPhenotype data for mouse gene Cdc23. Discover Cdc23's significant phenotypes, expression, images, histopathology and more. Data for gene Cdc23 is all freely available for download. ... Ermine Phenotype: Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair: OMIM:227010: Hidrotic Ectodermal Dysplasia:
WebSynonyms of ermine. 1. or plural ermine. a. : any of several weasels whose coats become white in winter usually with black on the tip of the tail. especially : a weasel (Mustela … second hand professional kitchen equipmentWebErmine phenotype. aka/or. BADS syndrome. may cause or feature + (Follow link for list.) belong(s) to the category of + (Follow link for list.) Black locks, oculocutaneous albinism, and deafness of the sensorineural type: Definition(s) via … second hand projector redditWebPhenotypic and microscopic description of a new case of Ermine phenotype Y. Zarate, M. Pacheco, K. Bove, R. Gorlin, Huiquan Zhao, R. Hopkin American Journal of Medical Genetics. Part A 2009 Corpus ID: 11258597 We describe a new case of Ermine phenotype. The patient had the striking pattern of skin and hair involvement that … punishment for killing a dog in indiaWebThe term ermine phenotype has been chosen to describe patients with white hair with black tufts. The patients also have sensorineural hearing loss. This rare phenotype may … second hand pro v1WebSummary. A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of … second hand projector minneapolisWebPhenotype data for mouse gene Baz2b. Discover Baz2b's significant phenotypes, expression, images, histopathology and more. Data for gene Baz2b is all freely available for download. ... Ermine Phenotype: Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair: OMIM:227010: Acute Myelomonocytic Leukemia: punishment for hawala in indiaWeber·mine (ûr′mĭn) n. 1. A weasel (Mustela erminea) native to northern regions, having a black-tipped tail and dark brown fur that in winter changes to white. Also called stoat. 2. The commercially valuable white fur of this animal. punishment for jaywalking