title: CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.
authors: From Erasmus University Medical Center (G.M.S.M., R.S., M.C.Y.d.W., R.F.d.C., R.O., K.B.-d.H., L.P.V.B., F.A.T.d.V., M.W., M.A.v.S.), Rotterdam; and Utrecht University Medical Center (M.H.L.), the Netherlands. L.P.V.B. is currently affiliated with the Department of Medical Genetics, University Medical Center Groningen, the Netherlands. g.mancini@erasmusmc.nl.
authors: Grazia M S
authors: GM
authors: Mancini
authors: From Erasmus University Medical Center (G.M.S.M., R.S., M.C.Y.d.W., R.F.d.C., R.O., K.B.-d.H., L.P.V.B., F.A.T.d.V., M.W., M.A.v.S.), Rotterdam; and Utrecht University Medical Center (M.H.L.), the Netherlands. L.P.V.B. is currently affiliated with the Department of Medical Genetics, University Medical Center Groningen, the Netherlands.
authors: Rachel
authors: R
authors: Schot
authors: From Erasmus University Medical Center (G.M.S.M., R.S., M.C.Y.d.W., R.F.d.C., R.O., K.B.-d.H., L.P.V.B., F.A.T.d.V., M.W., M.A.v.S.), Rotterdam; and Utrecht University Medical Center (M.H.L.), the Netherlands. L.P.V.B. is currently affiliated with the Department of Medical Genetics, University Medical Center Groningen, the Netherlands.
authors: Marie Claire Y
authors: MC
authors: de Wit
authors: From Erasmus University Medical Center (G.M.S.M., R.S., M.C.Y.d.W., R.F.d.C., R.O., K.B.-d.H., L.P.V.B., F.A.T.d.V., M.W., M.A.v.S.), Rotterdam; and Utrecht University Medical Center (M.H.L.), the Netherlands. L.P.V.B. is currently affiliated with the Department of Medical Genetics, University Medical Center Groningen, the Netherlands.
authors: René F
authors: RF
authors: de Coo
authors: From Erasmus University Medical Center (G.M.S.M., R.S., M.C.Y.d.W., R.F.d.C., R.O., K.B.-d.H., L.P.V.B., F.A.T.d.V., M.W., M.A.v.S.), Rotterdam; and Utrecht University Medical Center (M.H.L.), the Netherlands. L.P.V.B. is currently affiliated with the Department of Medical Genetics, University Medical Center Groningen, the Netherlands.
authors: Rianne
authors: R
authors: Oostenbrink
authors: From Erasmus University Medical Center (G.M.S.M., R.S., M.C.Y.d.W., R.F.d.C., R.O., K.B.-d.H., L.P.V.B., F.A.T.d.V., M.W., M.A.v.S.), Rotterdam; and Utrecht University Medical Center (M.H.L.), the Netherlands. L.P.V.B. is currently affiliated with the Department of Medical Genetics, University Medical Center Groningen, the Netherlands.
authors: Karen
authors: K
authors: Bindels-de Heus
authors: From Erasmus University Medical Center (G.M.S.M., R.S., M.C.Y.d.W., R.F.d.C., R.O., K.B.-d.H., L.P.V.B., F.A.T.d.V., M.W., M.A.v.S.), Rotterdam; and Utrecht University Medical Center (M.H.L.), the Netherlands. L.P.V.B. is currently affiliated with the Department of Medical Genetics, University Medical Center Groningen, the Netherlands.
authors: Lieke P V
authors: LP
authors: Berger
authors: From Erasmus University Medical Center (G.M.S.M., R.S., M.C.Y.d.W., R.F.d.C., R.O., K.B.-d.H., L.P.V.B., F.A.T.d.V., M.W., M.A.v.S.), Rotterdam; and Utrecht University Medical Center (M.H.L.), the Netherlands. L.P.V.B. is currently affiliated with the Department of Medical Genetics, University Medical Center Groningen, the Netherlands.
authors: Maarten H
authors: MH
authors: Lequin
authors: From Erasmus University Medical Center (G.M.S.M., R.S., M.C.Y.d.W., R.F.d.C., R.O., K.B.-d.H., L.P.V.B., F.A.T.d.V., M.W., M.A.v.S.), Rotterdam; and Utrecht University Medical Center (M.H.L.), the Netherlands. L.P.V.B. is currently affiliated with the Department of Medical Genetics, University Medical Center Groningen, the Netherlands.
authors: Femke A T
authors: FA
authors: de Vries
authors: From Erasmus University Medical Center (G.M.S.M., R.S., M.C.Y.d.W., R.F.d.C., R.O., K.B.-d.H., L.P.V.B., F.A.T.d.V., M.W., M.A.v.S.), Rotterdam; and Utrecht University Medical Center (M.H.L.), the Netherlands. L.P.V.B. is currently affiliated with the Department of Medical Genetics, University Medical Center Groningen, the Netherlands.
authors: Martina
authors: M
authors: Wilke
authors: From Erasmus University Medical Center (G.M.S.M., R.S., M.C.Y.d.W., R.F.d.C., R.O., K.B.-d.H., L.P.V.B., F.A.T.d.V., M.W., M.A.v.S.), Rotterdam; and Utrecht University Medical Center (M.H.L.), the Netherlands. L.P.V.B. is currently affiliated with the Department of Medical Genetics, University Medical Center Groningen, the Netherlands.
authors: Marjon A
authors: MA
authors: van Slegtenhorst
mesh_terms: D002675:Child, Preschool; D015897:Comorbidity; D055313:Cystatin B / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics*; D020820:Dyskinesias / Q000175:diagnosis / Q000235:genetics*; D056726:Genetic Association Studies; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D015994:Incidence; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D018570:Risk Assessment
chemical_list: C524994:CSTB protein, human; D005819:Genetic Markers; D055313:Cystatin B