Latest publications
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Not Apert syndrome: A critique of a recent case report by Pan and Yang
Journal article
WILKIE A., (2025), American Journal of Medical Genetics, Part A
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Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation
Journal article
Saad R. et al, (2025), American Journal of Medical Genetics Part A
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RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome.
Journal article
Leong WY. et al, (2025), PLoS Genet, 21