@article{GlintonHurstBowlingetal.2021,
  author    = {Glinton, Kevin E. and Hurst, Anna C. E. and Bowling, Kevin M. and Cristian, Ingrid and Haynes, Devon and Adstamongkonkul, Dusit and Schnappauf, Oskar and Beck, David B. and Brewer, Carole and Parikh, Aditi Shah and Shinde, Deepali N. and Donaldson, Alan and Brautbar, Ariel and Koene, Saskia and van Haeringen, Arie and Piton, Am{\´e}lie and Capri, Yline and Furlan, Margherita and Gardella, Elena and M{\o}ller, Rikke Steensbjerre and van de Beek, Irma and Zuurbier, Linda and Lakeman, Phillis and Bayat, Allan and Martinez, Julian and Signer, Rebecca and Torring, Pernille M. and Engelund, Morten Buch and Gripp, Karen W. and Amlie-Wolf, Louise and Henderson, Lindsay B. and Midro, Alina T. and Taras{\´o}w, Eugeniusz and Stasiewicz-Jarocka, Beata and Moskal-Jasinska, Diana and Vos, Paul and Boschann, Felix and Stoltenburg, Corinna and Puk, Oliver and Mero, Inger-Lise and Lossius, Kristine and Mignot, Cyril and Keren, Boris and Acosta Guio, Johanna C. and Brice{\~n}o, Ignacio and Gomez, Alberto and Yang, Yaping and Stankiewicz, Pawel},
  title     = {Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies},
  journal   = {American Journal of Medical Genetics, Part A},
  volume    = {185},
  number    = {5},
  issn      = {1552-4825},
  doi       = {10.1002/ajmg.a.62102},
  institution = {Institut f{\"u}r funktionale Gen-Analytik (IFGA)},
  pages     = {1366 -- 1378},
  year      = {2021},
  abstract  = {Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), defined primarily by developmental delay/intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features, is a syndrome resulting from heterozygous variants in the dosage-sensitive bromodomain PHD finger chromatin remodeler transcription factor BPTF gene. To date, only 11 individuals with NEDDFL due to de novo BPTF variants have been described. To expand the NEDDFL phenotypic spectrum, we describe the clinical features in 25 novel individuals with 20 distinct, clinically relevant variants in BPTF, including four individuals with inherited changes in BPTF. In addition to the previously described features, individuals in this cohort exhibited mild brain abnormalities, seizures, scoliosis, and a variety of ophthalmologic complications. These results further support the broad and multi-faceted complications due to haploinsufficiency of BPTF.},
  language  = {en}
}