De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment.
Fernández-Mayoralas, D M
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
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