1.
Nat Genet
; 51(10): 1438-1441, 2019 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31570889
RESUMO
Hypopigmentation along Blaschko's lines is a hallmark of a poorly defined group of mosaic syndromes whose genetic causes are unknown. Here we show that postzygotic inactivating mutations of RHOA cause a neuroectodermal syndrome combining linear hypopigmentation, alopecia, apparently asymptomatic leukoencephalopathy, and facial, ocular, dental and acral anomalies. Our findings pave the way toward elucidating the etiology of pigmentary mosaicism and highlight the role of RHOA in human development and disease.
Assuntos
Mosaicismo , Mutação , Síndromes Neurocutâneas/etiologia , Pigmentação da Pele/genética , Zigoto , Proteína rhoA de Ligação ao GTP/genética , Humanos , Síndromes Neurocutâneas/patologia
2.
Ocul Immunol Inflamm
; 24(5): 599-602, 2016 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25760915