Atypical presentations associated with non-polyalanine repeat PHOX2B mutations

Congenital central hypoventilation syndrome (CCHS) is a disorder of ventilatory control and autonomic dysregulation that can be caused by mutations in the paired-like homeobox 2B (PHOX2B) gene. The majority of CCHS cases are caused by polyalanine repeat mutations (PARMs) in PHOX2B; however, in rare...

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Bibliografiset tiedot
Julkaisussa:Am J Med Genet A
Päätekijät: Katwa, Umakanth, D'Gama, Alissa M., Qualls, Anita E., Donovan, Lucas M., Heffernan, Jody, Shi, Jiahai, Agrawal, Pankaj B.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2018
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6117218/
https://ncbi.nlm.nih.gov/pubmed/29704303
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38720
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