Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome

Academic Article

Publication Date:

2015

abstract:

Iris type:

01.01 Articolo in rivista

Keywords:

children; developmental delay; hairy elbows; hypertrichosis cubiti; KMT2A; MLL gene; whole exome sequencing; Wiedemann-Steiner syndrome

List of contributors:

Authors of the University:

GENTILE GIULIA

Handle:

Published in:

Journal

URL