Sökning: onr:"swepub:oai:DiVA.org:uu-13117" > Connexin 26 (GJB2) ...
Fältnamn | Indikatorer | Metadata |
---|---|---|
000 | 02718naa a2200397 4500 | |
001 | oai:DiVA.org:uu-13117 | |
003 | SwePub | |
008 | 080628s2006 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-131172 URI |
024 | 7 | a https://doi.org/10.2340/00015555-01642 DOI |
040 | a (SwePub)uu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Bondeson, Marie-Louiseu Uppsala universitet,Institutionen för genetik och patologi4 aut0 (Swepub:uu)malobond |
245 | 1 0 | a Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin |
264 | 1 | b Medical Journals Sweden AB,c 2006 |
338 | a print2 rdacarrier | |
520 | a Neuroectodermal syndromes involving the skin and inner ear may be associated with mutations in connexin proteins, which form gap junctions important for intercellular communication. Vohwinkel syndrome (keratodermia mutilans with hearing loss) and keratitis-ichthyosis-deafness (KID) syndrome are rare ectodermal dysplasias associated with dominant mutations in the GJB2 gene encoding connexin 26. We report here two patients, one with KID and one with Vohwinkel syndrome. Both displayed unusual clinical features and responded well to long-term treatment with oral retinoid. Mutation analysis revealed a novel GJB2 mutation p.Gly59Ser in the patient with Vohwinkel syndrome, whereas a recurrent mutation (p.Asp50Asn) was found in the patient with KID syndrome. The clinical features, particularly a proneness to skin cancer in the patient with Vohwinkel syndrome, are discussed in relation to the identified genotypes. | |
653 | a Acitretin | |
653 | a Cancer | |
653 | a Cx26 | |
653 | a mutation | |
653 | a Deafness | |
653 | a Genodermatosis | |
653 | a MEDICINE | |
653 | a MEDICIN | |
700 | 1 | a Nyström, Anna-Majau Uppsala universitet,Institutionen för genetik och patologi4 aut |
700 | 1 | a Gunnarsson, Ulrikau Uppsala universitet,Institutionen för genetik och patologi4 aut |
700 | 1 | a Vahlquist, Andersu Uppsala universitet,Institutionen för medicinska vetenskaper,Dermatologi och venereologi4 aut0 (Swepub:uu)andevahl |
710 | 2 | a Uppsala universitetb Institutionen för genetik och patologi4 org |
773 | 0 | t Acta Dermato-Venereologicad : Medical Journals Sweden ABg 86:6, s. 503-508q 86:6<503-508x 0001-5555x 1651-2057 |
856 | 4 | u https://doi.org/10.2340/00015555-0164 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-13117 |
856 | 4 8 | u https://doi.org/10.2340/00015555-0164 |
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