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

Crossref DOI link: https://doi.org/10.1038/s41436-021-01178-x

Published Print: 2021-09

Update policy: https://doi.org/10.1016/elsevier_cm_policy

Authors

Zhou, Amy

Rand, Casey M.

Hockney, Sara M.

Niewijk, Grace

Reineke, Patrick

Speare, Virginia

Berry-Kravis, Elizabeth M.

Zhou, Lili

Jennings, Lawrence J.

Yu, Min

Ceccherini, Isabella

Bachetti, Tiziana

Pennock, Melanie

Yap, Kai Lee

Weese-Mayer, Debra E.
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Version of Record valid from 2022-09-02
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This article is maintained by: Elsevier

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

Journal Title: Genetics in Medicine

CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/s41436-021-01178-x

Content Type: article

Copyright: © 2021, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics

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