Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Ash ZawertonCyril MignotAshley SigafoosPatrick R BlackburnAbdul HaseebKirsty McWalterShoji IchikawaCaroline NavaBoris KerenPerrine CharlesIsabelle MareyAnne-Claude TabetJonathan LevyLaurence PerrinAndreas HartmannGaetan LescaCaroline Schluth-BolardPauline MoninSophie Dupuis-GirodMaria J Guillen SacotoRhonda E SchnurZehua ZhuAlice PoissonSalima El ChehadehYves AlembikAnge-Line BruelDaphne LehalleSophie NambotSébastien MouttonSylvie OdentSylvie JaillardChristele DubourgYvonne Hilhorst-HofsteeTina Barbaro-DieberLucia OrtegaElizabeth J BhojDiane Masser-FryeLynne M BirdKristin LindstromKeri M RamseyVinodh NarayananEmily FassiMarcia WillingTrevor ColeClaire G SalterRhoda AkilapaAnthony VandersteenNatalie CanhamPatrick RumpErica H GerkesJolien S Klein Wassink-RuiterEmilia BijlsmaMariëtte J V HofferMarcelo VargasAntonina WojcikFlorian CherikChristine FrancannetJill Anne RosenfeldKeren MacholDaryl A ScottCarlos A BacinoXia WangGary D ClarkMarta BertoliSimon ZwolinskiRhys Huw ThomasEla AkayRichard C ChangRebekah BressiRossana Sanchez RussoMyriam SrourLaura RussellAnne-Marie E GoyetteLucie DupuisRoberto Mendoza-LondonoCatherine KarimovMaries JosephMathilde NizonBenjamin CognéAlma KuechlerAmélie Pitonnull nullEric W KleeVéronique LefebvreKarl J ClarkChristel DepiennePublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
This study extends the clinical and genetic spectrum associated with LAMSHF and consolidates evidence that SOX5 haploinsufficiency leads to variable degrees of intellectual disability, language delay, and other clinical features.