Associated Papers
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.
Watts LM et al.
European Journal of Human Genetics : Ejhg, 2024
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.
Twigg SR et al.
American Journal of Human Genetics, 2012
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