Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)

Bilateral laryngeal abductor paralysis is a rare entity and the second most common cause of stridor in newborns. So far, no conclusive genetic or chromosomal aberration has been reported for X-linked isolated bilateral vocal cord paralysis, also referred to as Plott syndrome. Via whole genome sequen...

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Detalles Bibliográficos
Autores principales: Boschann, Felix, Moreno, Daniel Acero, Mensah, Martin A., Sczakiel, Henrike L., Skipalova, Karolina, Holtgrewe, Manuel, Mundlos, Stefan, Fischer-Zirnsak, Björn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Nature Singapore 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9233990/
https://www.ncbi.nlm.nih.gov/pubmed/35095096
http://dx.doi.org/10.1038/s10038-022-01018-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9233990/
https://www.ncbi.nlm.nih.gov/pubmed/35095096
http://dx.doi.org/10.1038/s10038-022-01018-z

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