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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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2019
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7005617/
https://ncbi.nlm.nih.gov/pubmed/31568707
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.957
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