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The penetrance in Leber's hereditary optic neuropathy (LHON) pedigrees is determined primarily by a mutation in the mitochondrial genome (mtDNA), but secondary factors are also necessary for manifestation of the disorder. It has been proposed that mtDNA polymorphisms affect penetrance in LHON...
We describe a girl with an unusual form of subcortical band heterotopia (SBH) and a complex malformation syndrome. SBH had an irregular inner margin, organized in contiguous fascicles of migrating neurons, sometimes giving the appearance of many small contiguous gyri. The true cortex had...
The dopaminergic system in the human brain is thought to play a major role in the development of alcohol consumption habits and alcoholism. It has been reported that homozygous D2−/− knock‐out mice lacking D2 receptors consume about 50% to 60% less ethanol than wild‐type D2+/+ mice, and...
The original article to which this erratum refers was published in the American Journal of Medical Genetics (2003) 117A:87–88
Abdominal wall defects distant from the umbilicus are very unusual. We describe a patient with a congenital defect adjacent and external to the lateral border of the recti muscles, rounded in shape, bilateral and symmetrical, but affecting different structures in each side, musculocutaneous...
We report on child with Chiari I malformation (CIM) and cloacal exstrophy, a combination of findings that has not been reported previously. CIM and cloacal exstrophy both demonstrate abnormalities that represent maldevelopment of the midline field. This combination of anomalies in this patient...
Bone size is an important determinant of osteoporotic fractures. For a sample of 53 pedigrees that contains more than 10,000 relative pairs informative for linkage analyses, we performed a whole‐genome linkage scan using 380 microsatellite markers to identify genomic regions that may contain...
This study sought to determine whether a change in twinning prevalence was associated with mandatory folic acid fortification. As of January 1998, it became mandatory in the United States that grain products be fortified with folic acid. The effectiveness of this fortification for neural tube...
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