A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene. Issue 12 (5th December 2021)

• Record Type: Journal Article
• Authors: Balza, Claire; Garofalo, Giulia; Cos, Teresa; Désir, Julie; Kang, Xin; Keymolen, Kathelijn; Soblet, Julie; Van Berkel, Kim; Vilain, Catheline; Ben Abbou, Wafa; Cassart, Marie
• Is Part Of: Clinical case reports. Volume 9:Issue 12(2021)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2021-12-05
• Subjects: cerebellar hypoplasia -- lissencephaly -- reelinopathy -- RELN; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.4882
• Languages: English
• ISSNs: 2050-0904

Abstract

Abstract: 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. Abstract : 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.