Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene - Aix-Marseille Université Access content directly
Journal Articles European Journal of Human Genetics Year : 2019

Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene

L. Francescatto
  • Function : Author
P. L. Tan
  • Function : Author
A. Bourchany
  • Function : Author
C. Delafoulhouze
  • Function : Author
E. Marinier
  • Function : Author
A. Delarue
  • Function : Author
E. Ecochard-Dugelay
  • Function : Author
P. Gauchez
  • Function : Author
E. Gonzales
  • Function : Author
C. Guettier-Bouttier
  • Function : Author
M. Komutora
  • Function : Author
G. Hery
  • Function : Author
R. Maudinas
  • Function : Author
K. Mazodier
  • Function : Author
Y. Rimet
  • Function : Author
B. Roquelaure
  • Function : Author
E. Savajols
  • Function : Author
X. Stephenne
  • Function : Author
J. Hugot
  • Function : Author
N. Katsanis
  • Function : Author

Domains

Genetics
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Dates and versions

hal-02461437 , version 1 (30-01-2020)

Identifiers

  • HAL Id : hal-02461437 , version 1

Cite

L. Faivre, Clothilde Esteve, L. Francescatto, P. L. Tan, A. Bourchany, et al.. Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene. European Journal of Human Genetics, 2019, 27 (1), pp.795-796. ⟨hal-02461437⟩
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