Associated Papers
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.
De Rubeis S et al.
Molecular Autism, 2018
29719671 (PubMed )
Supplement: 13229_2018_205_MOESM1_ESM.xlsx › Table_S1
De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.
Hara M et al.
American Journal of Medical Genetics. Part A, 2015
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