A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility - Université de Reims Champagne-Ardenne Access content directly
Journal Articles Clinical and Experimental Dermatology Year : 2022

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

Sokounthie Ou
Nicole Cesarato
  • Function : Author
Pierre Mauran
  • Function : Author
Hôpital universitaire Robert Debré [Reims]
Marie‐paule Gellé
  • Function : Author
Holger Thiele
Regina Betz
Manuelle Viguier
Laurence Gusdorf
  • Function : Author

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Life Sciences [q-bio]

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https://hal.univ-reims.fr/hal-03678004

Submitted on : Wednesday, May 25, 2022-10:10:35 AM

Last modification on : Tuesday, April 30, 2024-3:18:04 PM

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hal-03678004 , version 1 (25-05-2022)

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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, 2022, ⟨10.1111/ced.15210⟩. ⟨hal-03678004⟩

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