Choroidal abnormalities in café‐au‐lait syndromes: a new differential diagnostic tool?

The best known café‐au‐lait syndrome is neurofibromatosis type 1 (NF1). Legius syndrome (LS) is another, rarer syndrome with café‐au‐lait macules (CALMs). In young patients their clinical picture is often indistinguishable. We investigated the presence of choroidal abnormalities in syndromes with CA...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Clinical genetics 2017-04, Vol.91 (4), p.529-535
Hauptverfasser:	Cassiman, C., Casteels, I., Jacob, J., Plasschaert, E., Brems, H., Dubron, K., Keer, K.V., Legius, E.
Format:	Artikel
Sprache:	eng
Schlagworte:	Cafe-au-Lait Spots - diagnosis Cafe-au-Lait Spots - genetics Cafe-au-Lait Spots - physiopathology café‐au‐lait macules Choroid - physiopathology choroidal abnormalities Diagnosis, Differential Genetic Counseling Genetic disorders Genetic testing Genotype & phenotype Humans Intracellular Signaling Peptides and Proteins - genetics Legius syndrome Membrane Proteins - genetics Mutation neurofibromatosis Neurofibromatosis 1 - diagnosis Neurofibromatosis 1 - genetics Neurofibromatosis 1 - physiopathology Noonan syndrome with multiple lentigines Visual Acuity - genetics
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!