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10.1002/ajmg.1320160417.abs We report on an autosomal dominant neonatal‐infantile seizure disorder and offer criteria for establishing the diagnosis and guidelines for the evaluation and treatment of this disorder. Long‐term anticonvulsant treatment usually is not required. The subsequent...
10.1002/ajmg.1320160415.abs While the role of cytogenetic study in couples with repeated pregnancy loss is well‐established, little information is available for counseling these couples concerning future reproductive outcome. Couples evaluated by chromosome analysis for recurrent abortion...
10.1002/ajmg.1320160414.abs Linkage analyses between 21 genetic markers including HLA‐A, B, and the postulated locus for determining total serum IgE levels were done to try to clarify the inheritance of total IgE levels and to map the locus. A total of 316 individuals from five Mormon kindreds...
10.1002/ajmg.1320160409.abs The cerebrohepatorenal syndrome of Zellweger (CHRS) is remarkable not only for a distinctive combination of congenital anomalies, but also for an unusual variety of profound metabolic disturbances. After a discussion of the clinical diagnosis of CHRS, abnormalities in...
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