Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Theresa BrunetKirsty McWalterKatharina MayerhanserGrace M AnboubaAmy Armstrong-JavorsIngrid BaderEvan BaughAmber BegtrupCaleb P BuppBert L CallewaertAnna CeredaMargot A CousinJuan C Del Rey JimenezLaurie DemmerNikita R DsouzaNicole FleischerRalitza H GavrilovaSumedha GhateElisabeth GrafAndrew GreenSarah R GreenMaria IasconeAmeni KdissaDirk KleeEric W KleeEmily LancasterKristin LindstromJohannes A MayrMeriel McEntagartNaomi J L MeeksDana MittagHarrison MooreAnne K OlsenDamara OrtizGretchen ParsonsLoren D M PenaRichard E PersonSumit PunjGonzalo Alonso Ramos-RiveraMaria J Guillen SacotoG Bradley SchaeferRhonda E SchnurTiana M ScottDaryl A ScottCarolyn R SerbinskiVandana ShashiVictoria M SiuBarbro Fossøy StadheimJennifer A SullivanJana ŠvantnerováLea VelsherDavid S WargowskiIngrid M WentzensenDagmar WieczorekJuliane WinkelmannPatrick YapMichael ZechMichael T ZimmermannThomas MeitingerFelix DistelmaierMatias WagnerPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Our aggregated data illustrate the genotypic and phenotypic spectrum of X-linked, MSL3-related disorder (Basilicata-Akhtar syndrome). Our cohort improves the understanding of disease related morbidity and allows us to propose detailed surveillance guidelines for affected individuals.