title: A novel PTPN11 missense mutation in a patient with LEOPARD syndrome.
authors: Departments of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo 060-8638, Japan. r-osawa@fm2.seikyou.ne.jp
authors: R
authors: R
authors: Osawa
authors: M
authors: M
authors: Akiyama
authors: Y
authors: Y
authors: Yamanaka
authors: H
authors: H
authors: Ujiie
authors: I
authors: I
authors: Nemoto-Hasebe
authors: A
authors: A
authors: Takeda
authors: T
authors: T
authors: Yanagi
authors: H
authors: H
authors: Shimizu
mesh_terms: D002648:Child; D005091:Exons / Q000235:genetics; D006801:Humans; D044542:LEOPARD Syndrome / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics*
chemical_list: C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11