First report on an X-linked hypohidrotic ectodermal dysplasia family with X chromosome inversion: Breakpoint mapping reveals the pathogenic mechanism and preimplantation genetics diagnosis achieves an unaffected birth
Keywords: aCGH; array comparative genomic hybridisation; ADO; allele drop out; ALB; alkaline lysis buffer; ED; ectodermal dysplasia; EDA; anhidrotic ectodermal dysplasia; EDAR; EDA receptor; EDARADD; EDAR-associated death domain; FISH; fluorescence in situ hybridiz