Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion

There is only one report of patients with developmental delay due to a 6q16.1 deletion that does not contain the SIM1 gene. A 3-year-old female showed strabismus, cleft soft palate, hypotonia at birth, and global developmental delay. Exome sequencing detected a de novo 6q16.1 deletion (chr6: 9928271...

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Detalles Bibliográficos
Autores principales: Okazaki, Tetsuya, Kawaguchi, Tatsuya, Saiki, Yusuke, Aoki, Chisako, Kasagi, Noriko, Adachi, Kaori, Saida, Ken, Matsumoto, Naomichi, Nanba, Eiji, Maegaki, Yoshihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9114330/
https://www.ncbi.nlm.nih.gov/pubmed/35581197
http://dx.doi.org/10.1038/s41439-022-00194-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9114330/
https://www.ncbi.nlm.nih.gov/pubmed/35581197
http://dx.doi.org/10.1038/s41439-022-00194-w

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