Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome

Publikation: Bidrag til tidsskriftLetterForskningfagfællebedømt

  • Alina T. Midro
  • Tommerup, Niels
  • Jan Borys
  • Barbara Panasiuk
  • Bożena Kosztyła-Hojna
  • Renata Zalewska
  • Jerzy Konstantynowicz
  • Urszula Łebkowska
  • Lance Cooper
  • Steven E. Scherer
  • Manna M. Mehrjouy
  • Qian Liu
  • Rafał Skowroński
  • Paweł Stankiewicz
OriginalsprogEngelsk
TidsskriftClinical Genetics
Vol/bind95
Udgave nummer4
Sider (fra-til)534-536
Antal sider3
ISSN0009-9163
DOI
StatusUdgivet - 2019

ID: 212501819