Further delineation of O2HE syndrome due to UNC45A biallelic variants and launching of the initiative adopt a gene for UNC45A

C Racine; J Baptista; L Hawkes; C Thauvin-Robinet; A Vitobello; P Callier; Y Duffourd; C Philippe; Vries B De; A Verloes; J Hugot; D Bremond-Gignac; F Huet; C Bensignor; R Maudinas; A Fabre; C Esteve; S Ellard; A Rodrigues; E Blair; L Faivre

Further delineation of O2HE syndrome due to UNC45A biallelic variants and launching of the initiative adopt a gene for UNC45A

C Racine
, J Baptista
, L Hawkes
, C Thauvin-Robinet
, A Vitobello
, P Callier
, Y Duffourd
, C Philippe
, Vries B De
, A Verloes
, J Hugot
, D Bremond-Gignac
, F Huet
, C Bensignor
, R Maudinas
, A Fabre
, C Esteve
, S Ellard
, A Rodrigues
, E Blair

L Faivre

Peninsula Medical School

Research output: Contribution to journal › Conference proceedings published in a journal › peer-review

Original language	English
Pages (from-to)	1529-1530
Number of pages	0
Journal	European Journal of Human Genetics
Volume	27
Issue number	0
Publication status	Published - 2019

Cite this

Racine, C., Baptista, J., Hawkes, L., Thauvin-Robinet, C., Vitobello, A., Callier, P., Duffourd, Y., Philippe, C., De, V. B., Verloes, A., Hugot, J., Bremond-Gignac, D., Huet, F., Bensignor, C., Maudinas, R., Fabre, A., Esteve, C., Ellard, S., Rodrigues, A., ... Faivre, L. (2019). Further delineation of O2HE syndrome due to UNC45A biallelic variants and launching of the initiative adopt a gene for UNC45A. European Journal of Human Genetics, 27(0), 1529-1530.

@article{6fca81c76b924a29aee95a0bcf2509f1,

title = "Further delineation of O2HE syndrome due to UNC45A biallelic variants and launching of the initiative adopt a gene for UNC45A",

author = "C Racine and J Baptista and L Hawkes and C Thauvin-Robinet and A Vitobello and P Callier and Y Duffourd and C Philippe and De, \{Vries B\} and A Verloes and J Hugot and D Bremond-Gignac and F Huet and C Bensignor and R Maudinas and A Fabre and C Esteve and S Ellard and A Rodrigues and E Blair and L Faivre",

year = "2019",

language = "English",

volume = "27",

pages = "1529--1530",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

number = "0",

}

Racine, C, Baptista, J, Hawkes, L, Thauvin-Robinet, C, Vitobello, A, Callier, P, Duffourd, Y, Philippe, C, De, VB, Verloes, A, Hugot, J, Bremond-Gignac, D, Huet, F, Bensignor, C, Maudinas, R, Fabre, A, Esteve, C, Ellard, S, Rodrigues, A, Blair, E & Faivre, L 2019, 'Further delineation of O2HE syndrome due to UNC45A biallelic variants and launching of the initiative adopt a gene for UNC45A', European Journal of Human Genetics, vol. 27, no. 0, pp. 1529-1530.

TY - JOUR

T1 - Further delineation of O2HE syndrome due to UNC45A biallelic variants and launching of the initiative adopt a gene for UNC45A

AU - Racine, C

AU - Baptista, J

AU - Hawkes, L

AU - Thauvin-Robinet, C

AU - Vitobello, A

AU - Callier, P

AU - Duffourd, Y

AU - Philippe, C

AU - De, Vries B

AU - Verloes, A

AU - Hugot, J

AU - Bremond-Gignac, D

AU - Huet, F

AU - Bensignor, C

AU - Maudinas, R

AU - Fabre, A

AU - Esteve, C

AU - Ellard, S

AU - Rodrigues, A

AU - Blair, E

AU - Faivre, L

PY - 2019

Y1 - 2019

M3 - Conference proceedings published in a journal

SN - 1018-4813

VL - 27

SP - 1529

EP - 1530

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 0

ER -