Mutations in the planar cell polarity genes<i>CELSR1</i>and<i>SCRIB</i>are associated with the severe neural tube defect craniorachischisis
Alexis Robinson(University College London), Philip Stanier(Institute of Child Health), Kit Doudney(University College London), Roger E. Stevenson(Piedmont Technical College), Michel Vekemans(Hôpital Necker-Enfants Malades), Sarah Escuin(University College London), Nicholas D. E. Greene(Great Ormond Street Hospital), Andrew J. Copp(Great Ormond Street Hospital)
Cited by 196
Related Papers
<i>AGTR2</i> Mutations in X-Linked Mental Retardation
|Science|2002|719
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
|Nature Genetics|2008|591
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
|Nature Genetics|2007|495
X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 gene
|Nature Genetics|1994|420
Evaluation of mental retardation: Recommendations of a consensus conference
|American Journal of Medical Genetics|1997|403