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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| 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 |