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1.
Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome.
Am J Med Genet A
; 179(7): 1139-1147, 2019 07.
Article
in English
| MEDLINE | ID: mdl-31067005
2.
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
Hum Mutat
; 38(10): 1365-1371, 2017 10.
Article
in English
| MEDLINE | ID: mdl-28649782
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