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
38760421 (PubMed )
Supplement: 41431_2024_1624_MOESM1_ESM.docx
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Hyder Z et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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