Examples include: Spinal muscular atrophy , beta thalassemias (β thalassemias), Clouston syndrome (or hidrotic ectodermal dysplasia), Gaucher's disease, cystic fibrosis, osteopetrosis, polycystic kidney disease, non-syndromic congenital sensorineural hearing loss, myotonic dystrophy, muscular dystrophy, tuberous sclerosis (type I and II), neurofibromatosis (type I), Huntington's disease or chorea, retinitis pigmentosa, haemophilia A, Fragile X syndrome...
Suggested for you: What Is PGD or Preimplantation Genetic Diagnosis?.
Andrea Rodrigo
BSc, MSc
Bachelor's Degree in Biotechnology from the Polytechnic University of Valencia. Master's Degree in Biotechnology of Human Assisted Reproduction from the University of Valencia along with the Valencian Infertility Institute (IVI). Postgraduate course in Medical Genetics.
