Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway |
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| Authors: | Vera-Carbonell Ascensión Moya-Quiles María Rosa Ballesta-Martínez María López-González Vanesa Bafallíu Juan Antonio Guillén-Navarro Encarna López-Expósito Isabel |
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| Affiliation: | Centro de Bioquímica y Genética Clínica, Hospital U. Virgen de la Arrixaca, Murcia, Spain. |
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| Abstract: | |
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| Keywords: | TP63, tumor protein p63 DLX, distal-less homeobox AER, apical ectodermal ridge DBD, DNA-binding domain ISO, isomerization TA, transactivation SAM, sterile alpha motif TI, transactivation inhibitory EEC, ectrodactyly–ectodermal dysplasia–cleft lip/palate AEC, ankyloblepharon–ectodermal dysplasia–cleft lip/palate RHS, Rapp–Hodgkin syndrome LMS, limb–mammary syndrome ADULT, acro-dermato-ungual-lacrimal-tooth SHFM, split hand/foot malformation DSS1, deleted split hand/split-foot 1 SHFM-BS, SHFM-binding site OFC, occipito-frontal head circumference CT, computed tomography MRI, magnetic resonance imaging PCR, Polymerase Chain Reaction GTG, Giemsa-Trypsin-G bands PHA, phytohemagglutinin CGH, Comparative Genomic Hybridization dCTP, deoxycytidine triphosphate ADM, Aberration Detection Method bp, base pair kb, kilobase Mb, megabase NCBI, National Center for Biotechnology Information IRTKS, insulin-receptor tyrosine kinase substrate inv, inversion del, deletion |
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