It has been more than 40 years since the cardiologist Jacqueline Noonan gave a detailed description of a patient with distinct facial, auxological and cardiological features. Since then, this symptom complex has been called Noonan syndrome (NS) [1]. It turned out that NS, together with some other overlapping syndromes, such as the cardio-facio-cutaneous, Costello and LEOPARD syndromes, belongs to one of the most frequent monogenic disorders, with an estimated incidence of 1:1,000-2,500 births [2]. Previous work led to the identification of certain genes that are responsible for these disorders. PTPN11 was the first gene recognized in subjects with NS, whereas several members of the Ras-MAPK pathway have been linked to the Noonan complex more recently.
Woelfle,J.、Hauffa,B.P.
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Pediatric Endocrinology Division, Children's Hospital, University of Bonn, Bonn, Germany
Pediatric Endocrinology and Diabetology, University of Duisburg, Essen, Germany
NSTL
Karger
