Article
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.
European journal of human genetics : EJHG - 1 Jul 2024
Watts Laura M, Bertoli Marta, Attie-Bitach Tania, Roux Natalie, Rausell Antonio, Paschal Cate R, Zambonin Jessica L, Curry Cynthia J, Martin Blanche, Tooze Rebecca S, Hawkes Lara, Kini Usha, Twigg Stephen R F, Wilkie Andrew O M
Abstract excerpt
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. We describe a further six families comprising eight individuals with MEGF8-associated CRPT2, increasing the total...
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