Clinical utility gene card for: Meckel syndrome - update 2016.
Center for Human Genetics, Bioscientia, Ingelheim, Germany.|Department of Medicine, University Freiburg Medical Center, Freiburg, Germany.
Carsten
C
Bergmann
Center for Human Genetics, Bioscientia, Ingelheim, Germany.
Valeska
V
Frank
Norio-Centre, Rinnekoti Foundation, Helsinki, Finland.
Riitta
R
Salonen
D002925:Ciliary Motility Disorders / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D003937:Diagnosis, Differential; D004677:Encephalocele / Q000175:diagnosis / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D007690:Polycystic Kidney Diseases / Q000175:diagnosis / Q000235:genetics*; D011506:Proteins / Q000235:genetics; D012174:Retinitis Pigmentosa
C509165:MKS1 protein, human; D011506:Proteins