MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM
Lieve Vits,
Guy Van Camp,
Paul Coucke,
Erik Fransén,
Kristel De Boulle,
Edwin Reyniers,
Bernhard Korn,
Annemarie Poustka,
Golder N. Wilson,
Connie Schrander‐Stumpel,
Nature Genetics · 1994 · 154 citations · 36 references