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Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.
J Med Genet. 2023 Nov;60(11):1127-1132. doi: 10.1136/jmg-2022-109119. Epub 2023 Apr 13.
J Med Genet. 2023.
PMID: 37055165
Angiokeratoma: a cutaneous marker of Fabry's disease.
Albano LM, Rivitti C, Bertola DR, Honjo RS, Kelmann SV, Giugliani R, Kim CA.
Albano LM, et al. Among authors: kelmann sv.
Clin Exp Dermatol. 2010 Jul;35(5):505-8. doi: 10.1111/j.1365-2230.2009.03721.x. Epub 2009 Oct 19.
Clin Exp Dermatol. 2010.
PMID: 19843083
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Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries.
Kelmann SV, Quaio CR, Honjo RS, Bertola DR, Rosa Neto NS, Lourenço CM, d'Almeida V, Lellis RF, Rivitti-Machado MC, Enokihara MM, Michalany NS, Kim CA.
Kelmann SV, et al.
Int J Dermatol. 2015 Jun;54(6):e241-4. doi: 10.1111/ijd.12713. Epub 2015 Mar 16.
Int J Dermatol. 2015.
PMID: 25778427
No abstract available.
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Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa.
Kelmann SV, Stephan BO, Barbosa SMM, Polastrini RTV, Oliveira ZNP, Rivitti-Machado MC, Spolador GM, Honjo RS, Saida K, Matsumoto N, Kim CA.
Kelmann SV, et al.
An Bras Dermatol. 2024 May-Jun;99(3):350-356. doi: 10.1016/j.abd.2023.07.002. Epub 2024 Feb 16.
An Bras Dermatol. 2024.
PMID: 38368142
Free PMC article.
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