title: First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation.
authors.affiliation: Department of Medical Biology and Genetics, Istanbul Bilim University School of Medicine, Istanbul, Turkey.
authors.forename: Ayvaz
authors.initials: A
authors.lastname: Ozge
authors.forename: Hatırnaz
authors.initials: H
authors.lastname: Safak
authors.forename: Hatırnaz
authors.initials: H
authors.lastname: Ebru
authors.forename: Unsal
authors.initials: U
authors.lastname: Evrim
authors.forename: Sinanoglu Ekin
authors.initials: SE
authors.lastname: Bilge
authors.forename: Ozer
authors.initials: O
authors.lastname: Leyla
authors.forename: Kadı Ali
authors.initials: KA
authors.lastname: Kemal
authors.forename: Baltacı
authors.initials: B
authors.lastname: Volkan
mesh_terms: D000328:Adult; D001757:Blastomeres; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics*; D004624:Embryo Transfer; D005260:Female; D005307:Fertilization in Vitro / Q000379:methods; D043373:Follicle Stimulating Hormone, Human / Q000008:administration & dosage; D006580:Genetic Carrier Screening; D006579:Heterozygote; D006801:Humans; D039663:Integrin beta4 / Q000235:genetics*; D016254:Mutagenesis, Insertional; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D017422:Sequence Analysis, DNA
chemical_list: D043373:Follicle Stimulating Hormone, Human; C059834:ITGB4 protein, human; D039663:Integrin beta4