Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Yee, Harris A"'
Autor:
Coccia, Margherita, Brooks, Simon P, Webb, Tom R, Christodoulou, Katja, Wozniak, Izabella O, Murday, Victoria, Balicki, Martha, Yee, Harris A, Wangensteen, Teresia, Riise, Ruth, Saggar, Anand K, Park, Soo-Mi, Kanuga, Naheed, Francis, Peter J, Maher, Eamonn R, Moore, Anthony T, Russell-Eggitt, Isabelle M, Hardcastle, Alison J
Publikováno v:
Human molecular genetics, vol 18, iss 14
Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Protein truncation mutations in a novel gene (NHS) have been identifie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::37a40fd7f76d9e6afc1d33f515972bf2
https://escholarship.org/uc/item/4r54b8bc
https://escholarship.org/uc/item/4r54b8bc
Autor:
Coccia M; UCL Institute of Ophthalmology, London, UK., Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2009 Jul 15; Vol. 18 (14), pp. 2643-55. Date of Electronic Publication: 2009 May 04.
