Detalhe da pesquisa
1.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Am J Hum Genet
; 97(1): 99-110, 2015 Jul 02.
Artigo
Inglês
| MEDLINE | ID: mdl-26119818
2.
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.
J Am Acad Dermatol
; 63(4): 607-41, 2010 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-20643494
3.
A novel keratin 5 mutation in an African family with epidermolysis bullosa simplex indicates the importance of the amino acid located at the boundary site between the H1 and coil 1A domains.
Acta Derm Venereol
; 93(5): 585-7, 2013 Sep 04.
Artigo
Inglês
| MEDLINE | ID: mdl-23450297
4.
Bathing-suit ichthyosis. A peculiar phenotype of lamellar ichthyosis in South African blacks.
Eur J Dermatol
; 15(6): 433-6, 2005.
Artigo
Inglês
| MEDLINE | ID: mdl-16280294
5.
Pagetoid reticulosis with CD30 positivity and cytotoxic/suppressor cells.
J Cutan Pathol
; 34(8): 644-7, 2007 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-17640236
6.
The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1.
J Invest Dermatol
; 127(2): 490-3, 2007 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-16977323
7.
What syndrome is this? Barber-Say syndrome.
Pediatr Dermatol
; 23(2): 183-4, 2006.
Artigo
Inglês
| MEDLINE | ID: mdl-16650233