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Noonan syndrome with RAF1 gene mutations in a newborn with cerebral haemorrhage

BACKGROUND: Noonan syndrome is an autosomal dominant genetic disorder that can occur in men and women and has a sporadic or family history. NS can lead to abnormal bleeding, but cerebral haemorrhage is rare. This is the first case of cerebral haemorrhage with a RAF1 gene mutation that originated in...

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Detalles Bibliográficos
Autores principales: Lan, Junwei, Zeng, Tianbao, Liu, Sheng, Lan, Juhong, Qian, Lijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9367063/
https://www.ncbi.nlm.nih.gov/pubmed/35953836
http://dx.doi.org/10.1186/s40001-022-00772-2