A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay
Titel:
A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay
Auteur:
Thiel, Christian T. Dörr, Helmuth-Günther Trautmann, Udo Hoyer, Juliane Hofmann, Kristin Kraus, Cornelia Ekici, Arif B. Reis, André Rauch, Anita