MASA (mental retardation, aphasia, shuffling gait, adducted thumbs): Intronic mutation of L1CAM gene in male twins

Introduction: Different mutations of the L1CAM gene are known to produce different clinical phenotypes as X-linked hydrocephalus, MASA syndrome, X-recessive spastic paraplegia and X-recessive agenesis of the corpus callosum with random genotype phenotype correlation. The diagnosis is confirmed by di...

Ausführliche Beschreibung

Bibliographische Detailangaben

Hauptverfasser:	Brunner-Krainz, M, Fahsold, R, Maurer-Fellbaum, U, Plecko, B
Format:	Tagungsbericht
Sprache:	eng
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!