Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
BPTF相关神经发育障碍的表型扩展，表现为面部畸形和远端肢体异常
期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.62102
Glinton, Kevin E; Hurst, Anna C E; Bowling, Kevin M; Cristian, Ingrid; Haynes, Devon; Adstamongkonkul, Dusit; Schnappauf, Oskar; Beck, David B; Brewer, Carole; Parikh, Aditi Shah; Shinde, Deepali N; Donaldson, Alan; Brautbar, Ariel; Koene, Saskia; van Haeringen, Arie; Piton, Amélie; Capri, Yline; Furlan, Margherita; Gardella, Elena; Møller, Rikke Steensbjerre; van de Beek, Irma; Zuurbier, Linda; Lakeman, Phillis; Bayat, Allan; Martinez, Julian; Signer, Rebecca; Torring, Pernille M; Engelund, Morten Buch; Gripp, Karen W; Amlie-Wolf, Louise; Henderson, Lindsay B; Midro, Alina T; Tarasów, Eugeniusz; Stasiewicz-Jarocka, Beata; Moskal-Jasinska, Diana; Vos, Paul; Boschann, Felix; Stoltenburg, Corinna; Puk, Oliver; Mero, Inger-Lise; Lossius, Kristine; Mignot, Cyril; Keren, Boris; Acosta Guio, Johanna C; Briceño, Ignacio; Gomez, Alberto; Yang, Yaping; Stankiewicz, Pawel
