Breakpoint delineation in 5p‐ patients leads to new insights about microcephaly and the typical high‐pitched cry

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 at birth, epicanthal folds, hypotonia, delayed growth and deve...

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Detalles Bibliográficos
Autores principales: Chehimi, Samar N., Zanardo, Évelin A., Ceroni, José R. M., Nascimento, Amom M., Madia, Fabrícia A. R., Dias, Alexandre T., Filho, Gil M. N., Montenegro, Marília M., Damasceno, Jullian, Costa, Thaís V. M. M., Gasparini, Yanca, Kim, Chong A., Kulikowski, Leslie D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005617/
https://www.ncbi.nlm.nih.gov/pubmed/31568707
http://dx.doi.org/10.1002/mgg3.957

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