Consolidation of the clinical and genetic definition of a SOX4- related neurodevelopmental syndrome.

Marco AngelozziAnirudha KarvandeArnaud N MolinAlyssa L RitterJacqueline M M LeonardJuliann M SavattKristen DouglassScott M MyersMina GrippaDara TolchinElaine ZackaiSarah DonoghueAnna C E HurstMaria DescartesKirstin SmithDanita VelascoAndrew SchmanskiAmy CrunkMari J TokitaIris M de LangeKoen van GassenHannah RobinsonKatie GueganMohnish SuriChirag PatelMarie BournezLaurence Olivier-FaivreFrédéric Tran-Mau-ThemJanice BakerNoelle FabieK WeaverAmelle ShillingtonRobert J HopkinDaniela Q C M Barge-SchaapveldClaudia Al RuivenkampRegina BökenkampSamantha VerganoMaria Noelia Seco MoroAranzazu Díaz de BustamanteVinod K MisraKelly KennellyCaleb RogersJennifer FriedmanKristen M WigbyJerica LenbergClaudio GrazianoRebecca C Ahrens-NicklasVeronique Lefebvre

Published in: Journal of medical genetics (2022)

haploinsufficiency in neurogenesis and multiple other developmental processes.

Keyphrases

stem cells
transcription factor
genome wide
case report
copy number
cerebral ischemia
neural stem cells
subarachnoid hemorrhage