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An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency.
Eur J Med Genet. 2022 Nov;65(11):104613. doi: 10.1016/j.ejmg.2022.104613. Epub 2022 Sep 14.
Eur J Med Genet. 2022.
PMID: 36113757
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
Lajmi Y, Loeuillet L, Petrilli G, Egloff C, Nectoux J, Molac C, Roux N, Pannier E, Achaiaa A, Arkoub ZA, Chuon S, Coussement A, Dupont JM, Malan V, Spaggiari E, Razavi F, Amiel J, Bessières B, Grotto S, Attié-Bitach T.
Lajmi Y, et al.
Birth Defects Res. 2023 Mar 15;115(5):563-571. doi: 10.1002/bdr2.2141. Epub 2022 Dec 20.
Birth Defects Res. 2023.
PMID: 36538874
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