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
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author Balza, Claire
Garofalo, Giulia
Cos, Teresa
Désir, Julie
Kang, Xin
Keymolen, Kathelijn
Soblet, Julie
Van Berkel, Kim
Vilain, Catheline
Ben Abbou, Wafa
Cassart, Marie
author_facet Balza, Claire
Garofalo, Giulia
Cos, Teresa
Désir, Julie
Kang, Xin
Keymolen, Kathelijn
Soblet, Julie
Van Berkel, Kim
Vilain, Catheline
Ben Abbou, Wafa
Cassart, Marie
author_sort Balza, Claire
collection PubMed
description 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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spelling pubmed-86451772021-12-15 A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene Balza, Claire Garofalo, Giulia Cos, Teresa Désir, Julie Kang, Xin Keymolen, Kathelijn Soblet, Julie Van Berkel, Kim Vilain, Catheline Ben Abbou, Wafa Cassart, Marie Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2021-12-05 /pmc/articles/PMC8645177/ /pubmed/34917359 http://dx.doi.org/10.1002/ccr3.4882 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Balza, Claire
Garofalo, Giulia
Cos, Teresa
Désir, Julie
Kang, Xin
Keymolen, Kathelijn
Soblet, Julie
Van Berkel, Kim
Vilain, Catheline
Ben Abbou, Wafa
Cassart, Marie
A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene
title A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene
title_full A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene
title_fullStr A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene
title_full_unstemmed A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene
title_short A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene
title_sort prenatal case of lissencephaly with cerebellar hypoplasia: new mutation in reln gene
topic Case Report
url 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
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