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A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility

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https://hal.univ-reims.fr/hal-03678004
Contributor : valerian dormoy Connect in order to contact the contributor
Submitted on : Wednesday, May 25, 2022 - 10:10:35 AM
Last modification on : Wednesday, May 25, 2022 - 10:13:09 AM

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Sokounthie Ou, Nicole Cesarato, Pierre Mauran, Marie‐paule Gellé, Holger Thiele, et al.. A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility. Clinical and Experimental Dermatology, Wiley, 2022, ⟨10.1111/ced.15210⟩. ⟨hal-03678004⟩

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