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Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway

Authors:	Vera-Carbonell Ascensión Moya-Quiles María Rosa Ballesta-Martínez María López-González Vanesa Bafallíu Juan Antonio Guillén-Navarro Encarna López-Expósito Isabel

Institution:	Centro de Bioquímica y Genética Clínica, Hospital U. Virgen de la Arrixaca, Murcia, Spain.

Abstract:

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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