A respiratory/Hirschsprung phenotype in a...

Molecular Genetics & Genomic Medicine 2020 / 10

A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation

Pace, Nikolai Paul, Pace Bardon, Michael, Borg, Isabella
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Journal:
Molecular Genetics & Genomic Medicine
DOI:
10.1002/mgg3.1528
Date:
October, 2020
File:
PDF, 637 KB
2020
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