Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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 | |
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In Watson syndrome cafe-au-lait spots are associated with pulmonic stensis. |
Neurofibromatosis
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Familial spinal neurofibromatosis
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Legius syndrome
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Neurofibromatosis 1
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Neurofibromatosis-Noonan syndrome
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Noonan syndrome 6
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Watson syndrome
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NF1
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| 1. |
Upadhyaya M et al. (1992) Analysis of mutations at the neurofibromatosis 1 (NF1) locus. 
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| 2. |
Allanson JE et al. (1991) Watson syndrome: is it a subtype of type 1 neurofibromatosis?
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| 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.
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| 4. |
Sharland M et al. (1992) Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus.
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| 5. |
None (1967) Pulmonary stenosis, café-au-lait spots, and dull intelligence.
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| 6. |
Orphanet article Orphanet ID 3444
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| 7. |
OMIM.ORG article Omim 193520
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| 8. |
Wikipedia article Wikipedia EN (Watson_syndrome)
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