Prenatal clinical manifestations in individuals with COL4A1/2 variants.
Toshiyuki ItaiSatoko MiyatakeMasataka TaguriFumihito NozakiMasayasu OhtaHitoshi OsakaMasafumi MorimotoTomoko TandouFumikatsu NoharaYuichi TakamiFumitaka YoshiokaShoko ShimokawaJiu Okuno-YuguchiMitsuo MotobayashiYuko TakeiTetsuhiro FukuyamaSatoko KumadaYohane MiyataChikako OgawaYuki MakiNoriko TogashiTeruyuki IshikuraMakoto KinoshitaYusuke MitaniYonehiro KanemuraTsuyoshi OmiNaoki AndoAyako HattoriShinji SaitohYukihiro KitaiSatori HiraiHiroshi AraiFumihiko IshidaHidetoshi TaniguchiYasuji KitabatakeKeiichi OzonoShin NabatameRobert SmigielMitsuhiro KatoKoichi TandaYoshihiko SaitoAkihiko IshiyamaYushi NoguchiMazumi MiuraTakaaki NakanoKeiko HiranoRyoko HondaIchiro KukiJun-Ichi TakanashiAkihito TakeuchiTatsuya FukasawaChizuru SeiwaAtsuko HaradaYusuke YachiHiroyuki HigashiyamaHiroshi TerashimaTadayuki KumagaiSatoshi HadaYoshiichi AbeEtsuko MiyagiYuri UchiyamaAtsushi FujitaEri ImagawaYoshiteru AzumaKohei HamanakaEriko KoshimizuSatomi MitsuhashiTakeshi MizuguchiAtsushi TakataNoriko MiyakeYoshinori TsurusakiHiroshi DoiMitsuko NakashimaHirotomo SaitsuNaomichi MatsumotoPublished in: Journal of medical genetics (2020)
Prenatal observation of ventriculomegaly with comorbid foetal growth restriction should prompt a thorough ultrasound examination and COL4A1/2 gene testing should be considered when pathogenic variants are strongly suspected.