Detalhe da pesquisa
1.
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Am J Hum Genet
; 107(1): 34-45, 2020 07 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32497488
2.
Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing.
Acta Derm Venereol
; 100(16): adv00275, 2020 Sep 30.
Artigo
Inglês
| MEDLINE | ID: mdl-32926178
3.
Altered Notch signalling in Dowling-Degos disease: a transcriptomic insight into disease pathogenesis.
Br J Dermatol
; 189(6): 772-774, 2023 11 16.
Artigo
Inglês
| MEDLINE | ID: mdl-37625796
4.
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.
PLoS One
; 14(12): e0225943, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31790498
5.
Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease.
J Invest Dermatol
; 144(1): 181-184, 2024 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37468035