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BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in Brazil.
Breast Cancer Res Treat. 2023 May;199(1):127-136. doi: 10.1007/s10549-023-06892-5. Epub 2023 Mar 7.
Breast Cancer Res Treat. 2023.
PMID: 36881271
A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2.
Migliavacca MP, Fock RA, Almeida N, Cavalcanti T, Villela D, Perez ABA, Valle D, Wohler E, Sobreira NLM, Raskin S.
Migliavacca MP, et al.
Rev Paul Pediatr. 2023 Apr 7;41:e2022057. doi: 10.1590/1984-0462/2023/41/2022057. eCollection 2023.
Rev Paul Pediatr. 2023.
PMID: 37042943
Free PMC article.
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