1                                              Klippel-Feil syndrome is a skeletal malformation charact

2 ateral absence of C1, odontoid anomalies and Klippel-Feil syndrome.

3                      Other syndromes such as Klippel-Feil, familial dysautonomia, and Marfan syndrome

4    Gain-of-function mutations in AGGF1 cause Klippel-Trenaunay syndrome, whereas somatic loss-of-func

5 f VG5Q in patients with the vascular disease Klippel-Trenaunay syndrome (KTS).

6       Aggf1 is the first gene identified for Klippel-Trenaunay syndrome (KTS), and encodes an angioge

7 st-derived is specifically affected in human Klippel-Feil syndrome, Sprengel's deformity and Arnold-C

8 NS-IGF2 in mitochondrial disease and FBN3 in Klippel-Trenaunay-Weber syndrome.

9 e of VACTERL association as well as isolated Klippel-Feil syndrome, renal agenesis or esophageal atre

10 GDF6, GDF3) implicated in the development of Klippel-Feil syndrome (KFS).

11 with a vascular malformation consistent with Klippel-Trenaunay syndrome (KTS).