FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome.


We describe a patient with autism and brachymetaphalangy, meeting criteria for 2q37 deletion syndrome (also called Albright Hereditary Osteodystrophy-like syndrome or Brachydactyly-Mental Retardation syndrome, OMIM 600430). Our molecular cytogenetic studies, including array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization… (More)
DOI: 10.1002/ajmg.a.32779