Article
Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.
The Journal of clinical endocrinology and metabolism - 1 Jul 2004
Yoshida Rie, Hasegawa Tomonobu, Hasegawa Yukihiro, Nagai Toshiro, Kinoshita Eiichi, Tanaka Yoko, Kanegane Hirokazu, Ohyama Kenji, Onishi Toshikazu, Hanew Kunihiko, Okuyama Torayuki, Horikawa Reiko, Tanaka Toshiaki, Ogata Tsutomu
Abstract excerpt
We report on PTPN11 (protein-tyrosine phosphatase, nonreceptor type 11) mutation analysis and clinical assessment in 45 patients with Noonan syndrome. Sequence analysis was performed for all of the coding exons 1-15 of PTPN11, revealing a novel 3-bp deletion mutation and 10 recurrent missense mutations in 18 patients. Clinical assessment showed that 1) the growth pattern was similar in mutation-positive and...
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