Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specificHAX1mutations
نویسندگان
چکیده
منابع مشابه
Congenital abnormalities of the central nervous system.
Advances in genetics and molecular biology have led to a better understanding of the control of central nervous system (CNS) development. It is possible to classify CNS abnormalities according to the developmental stages at which they occur, as is shown below. The careful assessment of patients with these abnormalities is important in order to provide an accurate prognosis and genetic counselling.
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متن کاملNovel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.
We read with interest the recent perspective article by Klein. 1 Genetic analysis in individuals with severe congenital neutropenia (SCN) indicates that 60% of cases were attributable to heterozygous mutation in ELA2 gene encoding neutrophil elastase. 2 Homozygous mutation in HAX1 gene has been identified in patients with autosomal recessive form of SCN (Kostmann syndrome). 3 Patients with ELA2...
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ژورنال
عنوان ژورنال: Journal of Internal Medicine
سال: 2008
ISSN: 0954-6820,1365-2796
DOI: 10.1111/j.1365-2796.2008.01982.x