A familial syndrome of microcephaly, sparse hair, mental retardation, and seizures.
نویسندگان
چکیده
A family is described in which the father and three of his seven children have microcephaly, mild to moderate mental retardation, and sparse hair. The two affected boys have generalised seizures in addition.
منابع مشابه
آشنایی با فنیل کتونوری
Background: Phenylketonuria is an inherited metabolic disease. It is genetic disorder autosomal recessive type. It is caused by absent or deficiency Phenylalanine hydroxylase enzyme activity that converts Phenylalanine to Tyrosine. It leads to increasing Phenylalanine in the blood. Tyrosine is important for production of some neurotransmitters. So it caused deficiencies of dopamine and serotoni...
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Objective: About 50% of severe to profound intellectual disabilities (ID) are caused by genetic factors. In this study we decided to investigate the genetic causes of ID in 69 Bushehrian families to provide information for genetic counseling, carrier detection, and prenatal diagnosis. Materials & Methods: In this study we excluded known chromosomal abnormalities. The majority of families had...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 27 2 شماره
صفحات -
تاریخ انتشار 1990