A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene.
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ABSTRACT:
SUBMITTER: Balza C
PROVIDER: S-EPMC8645177 | biostudies-literature | 2021 Dec
REPOSITORIES: biostudies-literature
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A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene.
Balza Claire C Garofalo Giulia G Cos Teresa T Désir Julie J Kang Xin X Keymolen Kathelijn K Soblet Julie J Van Berkel Kim K Vilain Catheline C Ben Abbou Wafa W Cassart Marie M
Clinical case reports 20211205 12
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. ...[more]
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