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Two patients with Adams-Oliver syndrome and congenital cardiac malformations are described. A literature review revealed a 13.4% occurrence of congenital cardiac malformations in individuals with Adams-Oliver syndrome, suggesting that cardiac anomalies are a frequent manifestation of this...
We describe three delta-F508/G551S compound heterozygous siblings with a mild CF phenotype, characterized by mild chronic pulmonary disease, pancreatic sufficiency and increased sweat chloride levels. PCR-mediated site-directed mutagenesis detected the delta-F508 mutation on one allele, and the...
Pelizaeus-Merzbacher disease has been known since 1885. It is characterized by severe dysmyelination of the central nervous system. We describe a new mutation in exon 6 of the proteolipid protein gene in a 9-year-old boy with severe connatal Pelizaeus-Merzbacher disease.
A deletion of 7q21.2-q22.1 has been found in a patient with split foot and developmental retardation. Molecular analysis using polymerase chain reaction (PCR) showed deletion of three microsatellite markers, D7S527, D7S479 and D7S554, in the patient's paternal chromosome. These results pinpoint...
Structural and functional studies of the gene coding for the low density lipoprotein receptor in patients with familial hypercholesterolemia have uncovered over 180 mutant alleles of the gene. Although the classical familial hypercholesterolemia phenotype is well known, the range of phenotypic...
Seventy-eight families with retinitis pigmentosa, presenting at the genetic clinic of Sankara Nethralaya, Madras, over a period of 6 months, (from April to September 1993), were assessed to determine the different genetic types: 9% were autosomal dominant; 36%, autosomal recessive; 3%, X-linked...
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