Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Thaís V. M. M. Costa"'
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
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