Associated Papers
MCPH1: A Novel Case Report and a Review of the Literature.
Caraffi SG et al.
Genes, 2022
35456440 (PubMed )
Supplement: genes-13-00634-s001.zip › Table_S1-MCPH1_Case_Report_v_Literature.xlsx › Table_S1
A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis.
Vezain M et al.
Acta Neuropathologica Communications, 2018
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.
McSherry M et al.
Plos One, 2018
Select a paper to view details