autosomal recessive trait
National Institutes of Health
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Summary.Infantile dilated cardiomyopathy (IDCM) in Portuguese water dogs (PWD) involves an autosomal recessive trait. Based on…
Two brothers with congenital conductive hearing loss and phenotypic characteristics of maxillofacial dysostosis are described. In…
We have studied a boy with acrocallosal syndrome and hypogenitalism. He was the offspring of double first cousins. He had unusual…
Three sibs born to normal but consanguinous parents had flexion deformities of the thumb and fingers on one hand and sensory…
We are reporting on two Lehrerleut Hutterite sisters who have a syndrome of congenital shortness with mild spondylorhizomelic…
We describe progressive spastic paraparesis of the lower limbs in the presence of generalized vitiligo, premature graying of body…
Two brothers presented from birth with features characteristic of Sotos syndrome (cerebral gigantism): overgrowth, craniofacial…
Siblings are reported with severe mental retardation, spastic cerebral palsy and seizures; in addition they had progressive or…
SummaryA syndrome of glucose intolerance associated with hyperinsulinaemia and insulin resistance, skin changes, and mild…