De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment. [electronic resource]
- Neurologia Oct 2020
- 601-603 p. digital
Publication Type: Letter
2173-5808
10.1016/j.nrl.2019.05.006 doi
Blepharophimosis--genetics Congenital Hypothyroidism--genetics Facies Heart Defects, Congenital Histone Acetyltransferases--genetics Humans Intellectual Disability Joint Instability Mutation Specific Language Disorder--genetics