Detalhe da pesquisa
1.
De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features.
Am J Med Genet A
; 167A(10): 2418-24, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26033841
2.
Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype.
Am J Med Genet A
; 155A(1): 207-14, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21204234
3.
A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.
Am J Med Genet A
; 155A(11): 2885-96, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21990275
4.
Ectodermal abnormalities in patients with Kabuki syndrome.
Pediatr Dermatol
; 28(5): 507-11, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21692838
5.
Limb malformations with associated congenital constriction rings in two unrelated Egyptian males, one with a disorganization-like spectrum and the other with a probable distinct type of septo-optic dysplasia.
Clin Dysmorphol
; 19(1): 14-22, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19940763