Article
The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder.
Orphanet journal of rare diseases - 21 Jul 2023
Tiemens Dagmar K, Kleimeier Lotte, Leenders Erika, Wingbermühle Ellen, Roelofs Renee L, Sibbles Barbara, Oostwegel Floor S M, Vroonland Eva, van Leeuwen Conny, Niessen Hanneke, Sonnega Paul, Duursma Anniek, Willemsen Michel A A P, Draaisma Jos M T, Pittens Carina A C M
Abstract excerpt
BACKGROUND: Noonan syndrome spectrum disorders (NSSDs) constitute a group within the Rasopathies, and are one of the largest groups of syndromes with impact on multi-organ involvement known. The extreme variability of the clinical phenotype is, among others, due to the numerous different genes that are involved, and the differences in clinical presentation over the life span. We have studied the needs of patients...
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