Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome
نویسندگان
چکیده
منابع مشابه
Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy.
BACKGROUND X-linked adrenoleukodystrophy (ALD) is an inherited disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency. The classic form of ALD usually has onset in childhood (childhood cerebral ALD), with rapid neurologic deterioration leading to a vegetative state. Adult-onset cerebral ALD also presents with rapidly progressive neurologi...
متن کاملGrowth patterns of patients with Noonan syndrome: correlation with age and genotype.
BACKGROUND Growth patterns of patients with Noonan syndrome (NS) were established before the involved genes were identified. OBJECTIVE The goal of this study was to compare growth parameters according to genotype in patients with NS. SUBJECTS AND METHODS The study population included 420 patients (176 females and 244 males) harboring mutations in the PTPN11, SOS1, RAF1, or KRAS genes. NS-as...
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BACKGROUND Rett syndrome (RS) is a severe neurodevelopmental X-linked dominant disorder caused by mutations in the MECP2 gene. PURPOSE To search for point mutations on the MECP2 gene and to establish a correlation between the main point mutations found and the phenotype. METHOD Clinical evaluation of 105 patients, following a standard protocol. Detection of point mutations on the MECP2 gene...
متن کاملGenotype-phenotype correlation in patients suspected of having Sotos syndrome.
BACKGROUND Deletions and mutations in the NSD1 gene are the major cause of Sotos syndrome. We wanted to evaluate the genotype-phenotype correlation in patients suspected of having Sotos syndrome and determine the best discriminating parameters for the presence of a NSD1 gene alteration. METHODS Mutation and fluorescence in situ hybridization analysis was performed on blood samples of 59 patie...
متن کاملGenotype-phenotype correlation in long QT syndrome
Congenital long QT syndrome, caused by a cardiac channelopathy, is a leading cause of sudden cardiac death in the young population. In total, 16 genes have been implicated in this condition, with three genes being the most commonly affected. Long QT syndrome is one of the earliest conditions for which a genotype specific treatment was designed. This genotype-phenotype correlation extends to inv...
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ژورنال
عنوان ژورنال: Endocrine Journal
سال: 2019
ISSN: 0918-8959,1348-4540
DOI: 10.1507/endocrj.ej18-0564