Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Thais V. M. M. Costa"'
Autor:
Marilia M. Montenegro, Caio R. Quaio, Patricia Palmeira, Yanca Gasparini, Andreia Rangel‐Santos, Julian Damasceno, Estela M. Novak, Thamires M. Gimenez, Guilherme L. Yamamoto, Rachel S. Ronjo, Gil M. Novo‐Filho, Samar N. Chehimi, Evelin A. Zanardo, Alexandre T. Dias, Amom M. Nascimento, Thais V. M. M. Costa, Alberto J. da S. Duarte, Luiz L. Coutinho, Chong A. Kim, Leslie D. Kulikowski
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Abstract Background Bloom syndrome (BS) is a rare autosomal recessive chromosome instability disorder. The main clinical manifestations are growth deficiency, telangiectasic facial erythema, immunodeficiency, and increased risk to develop neoplasias
Externí odkaz:
https://doaj.org/article/35c3a715a56746a0b7510a3254638fb4
Autor:
Samar N. Chehimi, Évelin A. Zanardo, José R. M. Ceroni, Amom M. Nascimento, Fabrícia A. R. Madia, Alexandre T. Dias, Gil M. N. Filho, Marília M. Montenegro, Jullian Damasceno, Thaís V. M. M. Costa, Yanca Gasparini, Chong A. Kim, Leslie D. Kulikowski
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Abstract Background Cri du chat syndrome (CdCS) is a rare syndrome caused by a partial or complete deletion of the short arm of chromosome 5 (5p‐). The main clinical features include a high‐pitched cry, facial asymmetry, microcephaly, round face
Externí odkaz:
https://doaj.org/article/efd42a79e0bf410cb0c3de2027bd665a