Öz
Anahtar Kelimeler
Kaynakça
- Watson GH. Pulmonary stenosis, cafe-au-lait spots, and dull intelligence. Arch Dis Child 1967;42:303-307.
- Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/omim/
- Tassabehji M, Strachan T, Sharland M, et al. Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. Am J Hum Genet 1993;53:90-95.
- Lin AE, Birch PH, Korf BR, et al. Cardiovascular mal- formations and other cardiovascular abnormalities in neurofibromatosis 1. Am J Hum Genet 2000;95:108- 117.
- Allanson JE, Upadhyaya M, Watson GH, et al. Watson syndrome: is it a subtype of type 1 neurofibromatosis? J Med Genet 1991;28:752-756.
- Ruggieri M. The different forms of neurofibromatosis. Child’s Nerv Syst 1999;15:295-308.
- Foster JL, Bradley SM, Ikonomidis JS. Pulmonary artery aneurysm and coronary artery disease in the clinical presentation of watson syndrome. Ann Thorac Surg 2006;82:740-742.
- Upadhyaya M, Sarfarazi M, Huson S, et al. Linkage of Watson's syndrome to chromosome 17 markers. J Med Genet 1990;27:209.
- Upadhyaya, Shen M, Cherryson A, at al. Analysis of mutations at the neurofibromatosis 1 (NF1) locus. Hum Molec Genet 1992;1:735-740.
Öz
Watson sendromu, café-au-lait lekeleri, pulmoner stenoz, mental retardasyon, boy kısalığı
ile karakterizedir. Bu makalede, moleküler temeli henüz tartışmalı olan ve seyrek görülen bu
birlikteliği hatırlatmak amacıyla Watson sendromlu 13 yaşında bir kız olgu sunuldu.
Anahtar Kelimeler
Watson sendromu nörofibromatozis pulmoner stenoz café-au-lait lekesi
Kaynakça
- Watson GH. Pulmonary stenosis, cafe-au-lait spots, and dull intelligence. Arch Dis Child 1967;42:303-307.
- Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/omim/
- Tassabehji M, Strachan T, Sharland M, et al. Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. Am J Hum Genet 1993;53:90-95.
- Lin AE, Birch PH, Korf BR, et al. Cardiovascular mal- formations and other cardiovascular abnormalities in neurofibromatosis 1. Am J Hum Genet 2000;95:108- 117.
- Allanson JE, Upadhyaya M, Watson GH, et al. Watson syndrome: is it a subtype of type 1 neurofibromatosis? J Med Genet 1991;28:752-756.
- Ruggieri M. The different forms of neurofibromatosis. Child’s Nerv Syst 1999;15:295-308.
- Foster JL, Bradley SM, Ikonomidis JS. Pulmonary artery aneurysm and coronary artery disease in the clinical presentation of watson syndrome. Ann Thorac Surg 2006;82:740-742.
- Upadhyaya M, Sarfarazi M, Huson S, et al. Linkage of Watson's syndrome to chromosome 17 markers. J Med Genet 1990;27:209.
- Upadhyaya, Shen M, Cherryson A, at al. Analysis of mutations at the neurofibromatosis 1 (NF1) locus. Hum Molec Genet 1992;1:735-740.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Makaleler |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Nisan 2007 |
| Gönderilme Tarihi | 11 Ağustos 2015 |
| Yayımlandığı Sayı | Yıl 2007 Cilt: 21 Sayı: 1 |