A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata.
Mol Genet Genomic Med. 2021 Aug;9(8):e1733. doi: 10.1002/mgg3.1733. Epub 2021 Jun 10.
Mol Genet Genomic Med. 2021.
PMID: 34110102
Free PMC article.