Autosomal dominant osteopetrosis type II with "malignant" presentation: further support for heterogeneity?

doi:10.1111/j.1399-0004.1990.tb03578.x

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Article

Autosomal dominant osteopetrosis type II with "malignant" presentation: further support for heterogeneity?

Clinical genetics - 1 Oct 1990

Walpole I R, Nicoll A, Goldblatt J

Abstract excerpt

The osteopetroses are a heterogeneous group of disorders characterised by generalised bony sclerosis. The autosomal dominant form usually has a "benign" prognosis, in contrast to the "malignant" course of the autosomal recessive variety. In this paper we describe a kindred in which the phenotypic...

Topics

Adult
Blindness
Child, Preschool
Chromosome Aberrations
Chromosome Disorders
Female
Fractures, Spontaneous
Genes, Dominant
Humans
Infant
Male
Osteopetrosis
Pedigree
Phenotype
Retinal Degeneration

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