Detalhe da pesquisa
1.
Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome.
Am J Med Genet A
; 158A(8): 1823-31, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22786707
2.
Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature.
J Mol Neurosci
; 72(11): 2242-2251, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36251212