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The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients - European Journal of Human Genetics

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The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients - European Journal of Human Genetics

Carpenter syndrome (CRPTS) is a rare autosomal recessive condition caused by biallelic variants in genes that encode negative regulators of hedgehog signalling (RAB23 [CRPT1] or, more rarely, MEGF8 [CRPT2]), and is characterised by craniosynostosis, polysyndactyly, and other congenital abnormalities.

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The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients - European Journal of Human Genetics

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The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients - European Journal of Human Genetics

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