Výsledky vyhledávání - "Melanie Pennock"

Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype–phenotype correlation in congenital central hypoventilation syndrome (CCHS)

Autor: Min Yu, Tiziana Bachetti, Virginia Speare, Casey M. Rand, Isabella Ceccherini, Amy Zhou, Kai Lee Yap, Patrick Reineke, Lawrence J. Jennings, Debra E. Weese-Mayer, Sara M. Hockney, Lili Zhou, Melanie Pennock, Elizabeth Berry-Kravis, Grace Niewijk

Publikováno v: Genetics in Medicine. 23:1656-1663

Purpose CCHS is an extremely rare congenital disorder requiring artificial ventilation as life support. Typically caused by heterozygous polyalanine repeat expansion mutations (PARMs) in the PHOX2B gene, identification of a relationship between PARM

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ddba4abca4a84e89251cc011b0d5343b
https://doi.org/10.1038/s41436-021-01178-x

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Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS)

Autor: Amy, Zhou, Casey M, Rand, Sara M, Hockney, Grace, Niewijk, Patrick, Reineke, Virginia, Speare, Elizabeth M, Berry-Kravis, Lili, Zhou, Lawrence J, Jennings, Min, Yu, Isabella, Ceccherini, Tiziana, Bachetti, Melanie, Pennock, Kai Lee, Yap, Debra E, Weese-Mayer

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 23(9)

CCHS is an extremely rare congenital disorder requiring artificial ventilation as life support. Typically caused by heterozygous polyalanine repeat expansion mutations (PARMs) in the PHOX2B gene, identification of a relationship between PARM length a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ea1a1d26887a2fc3cd375572fbdcfea9
https://pubmed.ncbi.nlm.nih.gov/33958749

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