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Progress and Current Status in Hajdu-Cheney Syndrome with Focus on Novel Genetic Research
Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant manifestation of a congenital genetic disorder caused by a mutation in the NOTCH2 gene. NOTCH signaling has variations from NOTCH 1 to 4 and maintains homeostasis by determining and regulating the proliferation and differentiation of various c...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9570194/ https://www.ncbi.nlm.nih.gov/pubmed/36232677 http://dx.doi.org/10.3390/ijms231911374 |