Imprinting in Albright's hereditary osteodystrophy.

SJ Davies, HE Hughes - Journal of medical genetics, 1993 - jmg.bmj.com
SJ Davies, HE Hughes
Journal of medical genetics, 1993jmg.bmj.com
Review of published reports of Albright's hereditary osteodystrophy (AHO) involving two or
more generations shows a marked excess of maternal transmission. Full expression of the
gene (AHO+ hormone resistance, pseudohypoparathyroidism) occurs in maternally
transmitted cases and partial expression (AHO alone) when the gene is inherited from the
father, suggesting the involvement of genomic imprinting in the expression of this disorder.
Review of published reports of Albright's hereditary osteodystrophy (AHO) involving two or more generations shows a marked excess of maternal transmission. Full expression of the gene (AHO + hormone resistance, pseudohypoparathyroidism) occurs in maternally transmitted cases and partial expression (AHO alone) when the gene is inherited from the father, suggesting the involvement of genomic imprinting in the expression of this disorder.
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