Detalhe da pesquisa
1.
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
Am J Med Genet A
; 188(7): 2036-2047, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35445792
2.
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.
Eur J Med Genet
; 64(11): 104338, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-34500087