Watson syndrome
Watson syndrome | |
---|---|
Classification and external resources | |
Specialty | medical genetics |
ICD-10 | Q87.1 |
OMIM | 193520 |
DiseasesDB | 32244 |
MeSH | D009456 |
Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris, axillary/inguinal freckling, pulmonary valvular stenosis, relative macrocephaly, short stature, and neurofibromas.[1]
Watson syndrome is allelic to NF1, the same gene associated with neurofibromatosis type 1.[2]
See also
References
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 725, 831. ISBN 1-4160-2999-0.
- ↑ Allanson JE, Upadhyaya M, Watson GH, et al. (November 1991). "Watson syndrome: is it a subtype of type 1 neurofibromatosis?" (PDF). J. Med. Genet. 28 (11): 752–6. doi:10.1136/jmg.28.11.752. PMC 1017110. PMID 1770531.
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