Detalhe da pesquisa
1.
New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability.
Clin Genet
; 97(4): 639-643, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31845318
2.
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Hum Mutat
; 33(4): 728-40, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22290657
3.
Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.
PLoS One
; 10(2): e0117418, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25658757