ORCID
- Baptista, Julia: 0000-0003-0915-5028
DOI
10.1016/j.ajhg.2022.03.010
Publication Date
2022-05-05
Publication Title
American Journal of Human Genetics
Volume
109
Issue
5
ISSN
0002-9297
Embargo Period
2022-11-05
Organisational Unit
Peninsula Medical School
First Page
909
Last Page
927
Recommended Citation
Coolen, M., Altin, N., Rajamani, K., Pereira, E., Siquier-Pernet, K., Puig, L., Moreno, N., Barcia, G., Yvert, M., Laquerrière, A., Pouliet, A., Nitschké, P., Boddaert, N., Rausell, A., Razavi, F., Afenjar, A., Billette, d., Al-Maawali, A., Al-Thihli, K., Baptista, J., Beleza-Meireles, A., Garel, C., Legendre, M., Gelot, A., Burglen, L., Moutton, S., & Cantagrel, V. (2022) 'Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation', American Journal of Human Genetics, 109(5), pp. 909-927. Available at: https://doi.org/10.1016/j.ajhg.2022.03.010
