Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.
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Michot C, et al. Among authors: le merrer m.
Eur J Hum Genet. 2018 Nov;26(11):1611-1622. doi: 10.1038/s41431-018-0135-1. Epub 2018 Jul 13.
Eur J Hum Genet. 2018.
PMID: 30006632
Free PMC article.