A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3 (2008)
- Authors:
- USP affiliated authors: OTTO, PAULO ALBERTO - IB ; NETTO, REGINA CELIA MINGRONI - IB
- Unidade: IB
- DOI: 10.1007/s00439-008-0515-7
- Subjects: DOENÇAS GENÉTICAS; MALFORMAÇÕES
- Language: Inglês
- Imprenta:
- Source:
- Título: Human Genetics
- ISSN: 0340-6717
- Volume/Número/Paginação/Ano: v. 123, n. 6, p. 625-631, 2008
- Status:
- Nenhuma versão em acesso aberto identificada
-
ABNT
LEZIROVITZ, Karina et al. A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. Human Genetics, v. 123, n. 6, p. 625-631, 2008Tradução . . Disponível em: https://doi.org/10.1007/s00439-008-0515-7. Acesso em: 14 abr. 2026. -
APA
Lezirovitz, K., Maestrelli, S. R. P., Cotrim, N. H., Otto, P. A., Pearson, P. L., & Mingroni Netto, R. C. (2008). A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. Human Genetics, 123( 6), 625-631. doi:10.1007/s00439-008-0515-7 -
NLM
Lezirovitz K, Maestrelli SRP, Cotrim NH, Otto PA, Pearson PL, Mingroni Netto RC. A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3 [Internet]. Human Genetics. 2008 ; 123( 6): 625-631.[citado 2026 abr. 14 ] Available from: https://doi.org/10.1007/s00439-008-0515-7 -
Vancouver
Lezirovitz K, Maestrelli SRP, Cotrim NH, Otto PA, Pearson PL, Mingroni Netto RC. A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3 [Internet]. Human Genetics. 2008 ; 123( 6): 625-631.[citado 2026 abr. 14 ] Available from: https://doi.org/10.1007/s00439-008-0515-7 - Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant
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