A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene

Reelinopathies cause a distinctive lissencephaly type associated with cerebellar hypoplasia. To help further management, we wanted to report here the first prenatal diagnosis due to a homozygous inherited reelinopathy.

Detalles Bibliográficos
Autores principales: Balza, Claire, Garofalo, Giulia, Cos, Teresa, Désir, Julie, Kang, Xin, Keymolen, Kathelijn, Soblet, Julie, Van Berkel, Kim, Vilain, Catheline, Ben Abbou, Wafa, Cassart, Marie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8645177/
https://www.ncbi.nlm.nih.gov/pubmed/34917359
http://dx.doi.org/10.1002/ccr3.4882
Descripción
Sumario:Reelinopathies cause a distinctive lissencephaly type associated with cerebellar hypoplasia. To help further management, we wanted to report here the first prenatal diagnosis due to a homozygous inherited reelinopathy.

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