The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.
Watts LM, Bertoli M, Attie-Bitach T, Roux N, Rausell A, Paschal CR, Zambonin JL, Curry CJ, Martin B, Tooze RS, Hawkes L, Kini U, Twigg SRF, Wilkie AOM.
Watts LM, et al. Among authors: martin b.
Eur J Hum Genet. 2024 May 17. doi: 10.1038/s41431-024-01624-9. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 38760421