Detalhe da pesquisa
1.
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
Am J Med Genet A
; 167A(3): 461-75, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604898
2.
Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations.
Am J Med Genet A
; 158A(2): 292-7, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22140078
3.
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.
Eur J Hum Genet
; 29(9): 1384-1395, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33594261
4.
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Hum Mutat
; 31(8): E1587-93, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20648631