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A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene
Tijdschriftbijdrage - Tijdschriftartikel
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.
Tijdschrift: Clin Case Rep
ISSN: 2050-0904
Issue: 12
Volume: 9
Trefwoorden:cerebellar hypoplasia, lissencephaly, reelinopathy, RELN
Toegankelijkheid:Open