Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation-Reference-Cited by-同舟云学术

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation

Published:2022-05 Issue:5 Volume:109 Page:909-927
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Coolen Marion,Altin Nami,Rajamani Karthyayani,Pereira Eva,Siquier-Pernet Karine,Puig Lombardi Emilia,Moreno Nadjeda,Barcia Giulia,Yvert Marianne,Laquerrière Annie,Pouliet Aurore,Nitschké Patrick,Boddaert Nathalie,Rausell Antonio,Razavi Féréchté,Afenjar Alexandra,Billette de Villemeur Thierry,Al-Maawali Almundher,Al-Thihli Khalid,Baptista Julia,Beleza-Meireles Ana,Garel Catherine,Legendre Marine,Gelot Antoinette,Burglen Lydie,Moutton Sébastien,Cantagrel Vincent^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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