HuGE Literature Finder
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Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. Clinical dysmorphology 2016 Jul . Hamilton Mark J, Newbury-Ecob Ruth, Holder-Espinasse Muriel, Yau Shu, Lillis Suzanne, Hurst Jane A, Clement Emma, Reardon William, Joss Shelagh, Hobson Emma, Blyth Moira, Al-Shehhi Maryam, Lynch Sally A, Suri Mohnish, |
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome. Molecular genetics & genomic medicine 2016 Jan 4 (1): 39-45. Wincent Josephine, Luthman Aron, van Belzen Martine, van der Lans Christian, Albert Johanna, Nordgren Ann, Anderlid Britt-Mar |
Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography. Congenital anomalies 2005 Dec 45 (4): 125-31. Udaka Toru, Samejima Hazuki, Kosaki Rika, Kurosawa Kenji, Okamoto Nobuhiko, Mizuno Seiji, Makita Yoshio, Numabe Hironao, Toral Joaquín Fernández, Takahashi Takao, Kosaki Kenji |
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- Page last updated:Feb 01, 2023
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