Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE)
American journal of medical genetics. Part A, 2016-08, Vol.170A (8), p.2181-2185 [Peer Reviewed Journal]2016 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37727 ;PMID: 27170158
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