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Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.

Elena Martinez-CayuelasFiona Blanco-KellyFermina Lopez-GrondonaSaoud Tahsin SwafiriRosario Lopez-RodriguezRebeca Losada-Del PozoIgnacio Mahillo-FernandezBeatriz MorenoMaria Rodrigo-MorenoDidac Casas-AlbaAitor Lopez-GonzalezSixto García-MiñaúrMaria Ángeles MoriMarta Pacio-MinguezEmi Rikeros-OrozcoFernando Santos-SimarroJaime Cruz-RojoJuan Francisco Quesada-EspinosaMaria Teresa Sanchez-CalvinJaime Sanchez-Del PozoRaquel Bernado FonzMaria Isidoro-GarciaIrene Ruiz-AyucarMaria Isabel Alvarez-MoraRaquel Blanco-LagoBegoña De AzuaJesus EirisJuan Jose Garcia-PeñasBelen Gil-FournierCarmen Gomez-LadoNadia IrazabalVanessa Lopez-GonzalezIrene MadrigalIgnacio MalagaBeatriz Martinez-MenendezSoraya Ramiro-LeonMaria Garcia-HoyosPablo Prieto-MatosJavier Lopez-PisonSergio Aguilera-AlbesaSara AlvarezAlberto Fernández JaénIsabel Llano-RivasBlanca Gener-QuerolCarmen AyusoAna Arteche-LopezMaria Palomares-BraloAnna Cueto-GonzálezIrene ValenzuelaAntonio Federico Martínez-MonsenyIsabel Lorda-SanchezBerta Almoguera
Published in: Journal of medical genetics (2022)
variants in 340 patients, and propose updated clinical diagnostic criteria based on our findings.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • prognostic factors
  • gene expression
  • patient reported