Watson syndrome is an autosomal dominant disorder caused by mutations of the NF1 gene. It is characteized by cafe-au-lait spots are associated with pulmonic stensis.
Café au lait spots | |
In Watson syndrome cafe-au-lait spots are associated with pulmonic stensis. |
Neurofibromatosis | ||||
Familial spinal neurofibromatosis | ||||
Legius syndrome | ||||
Neurofibromatosis 1 | ||||
Neurofibromatosis-Noonan syndrome | ||||
Noonan syndrome 6 | ||||
Watson syndrome | ||||
NF1 | ||||
1. |
Upadhyaya M et al. (1992) Analysis of mutations at the neurofibromatosis 1 (NF1) locus. |
2. |
Allanson JE et al. (1991) Watson syndrome: is it a subtype of type 1 neurofibromatosis? |
3. |
Tassabehji M et al. (1993) Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. |
4. |
Sharland M et al. (1992) Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus. |
5. |
None (1967) Pulmonary stenosis, café-au-lait spots, and dull intelligence. |
6. |
Orphanet article Orphanet ID 3444 |
7. |
OMIM.ORG article Omim 193520 |
8. |
Wikipedia article Wikipedia EN (Watson_syndrome) |