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

Articolo

Data di Pubblicazione:

2015

Abstract:

Tipologia CRIS:

01.01 Articolo in rivista

Keywords:

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

Elenco autori:

Autori di Ateneo:

GENTILE GIULIA

Link alla scheda completa:

Pubblicato in:

Journal

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