PTPN11 Mutations in LEOPARD Syndrome: Report of Four Cases in Taiwan
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چکیده
منابع مشابه
ONLINE MUTATION REPORT PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience
B Keren, A Hadchouel, S Saba, Y Sznajer, D Bonneau, B Leheup, O Boute, D Gaillard, D Lacombe, V Layet, S Marlin, G Mortier, A Toutain, C Beylot, C Baumann, A Verloes, H Cavé, for the French Collaborative Noonan Study Group . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...
متن کاملPhosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.
Missense mutations in the PTPN11 gene, which encodes the protein tyrosine phosphatase SHP-2, cause clinically similar but distinctive disorders, LEOPARD (LS) and Noonan (NS) syndromes. The LS is an autosomal dominant disorder with pleomorphic developmental abnormalities including lentigines, cardiac defects, short stature and deafness. Biochemical analyses indicated that LS alleles engender los...
متن کاملLEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene.
LEOPARD syndrome (LS) is an acronym consisting of lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormal genitalia, retardation of growth and deafness. However, hypertrophic cardiomyopathy, the most frequent cause of sudden cardiac death in young people, is the most common cardiovascular manifestation in LS patients and the major determinant of ...
متن کاملPTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
B Keren, A Hadchouel, S Saba, Y Sznajer, D Bonneau, B Leheup, O Boute, D Gaillard, D Lacombe, V Layet, S Marlin, G Mortier, A Toutain, C Beylot, C Baumann, A Verloes, H Cavé, for the French Collaborative Noonan Study Group . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...
متن کاملLEOPARD syndrome: Report of a case
LEOPARD syndrome is an autosomal dominant hereditary disease, which is characterized with cutaneous pigmented patches, electrocardiographic changes, ocular hypertelorism, retarded growth, pulmonic stenosis, genital abnormalities and congenital deafness. The gene of this disease have high penetrance but expression is varied and incomplete forms may be seen. We report a 23 year-old woman wi...
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ژورنال
عنوان ژورنال: Journal of the Formosan Medical Association
سال: 2009
ISSN: 0929-6646
DOI: 10.1016/s0929-6646(09)60408-3