Imprinting in Albright's hereditary osteodystrophy

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 express...

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Veröffentlicht in:	Journal of medical genetics 1993-02, Vol.30 (2), p.101-103
Hauptverfasser:	Davies, S J, Hughes, H E
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Biological and medical sciences Cyclic AMP - urine Endocrinopathies Fathers Female genomic imprinting guanine nucleotide-binding protein hereditary diseases Humans Male man Medical sciences Mothers Non tumoral diseases. Target tissue resistance. Benign neoplasms osteodystrophy Parathyroid Hormone - pharmacology Parathyroids. Parafollicular cells. Cholecalciferol. Phosphocalcic homeostasis (diseases) Phenotype Pseudohypoparathyroidism - genetics Pseudopseudohypoparathyroidism - genetics reviews
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Beschreibung
Zusammenfassung:	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.
ISSN:	0022-2593 1468-6244 1468-6244
DOI:	10.1136/jmg.30.2.101