Cartilage-hair hypoplasia

*Gene map locus 9p21-p12

CHH

Metaphyseal chondrodysplasia, Mckusick type

Metaphyseal chondrodysplasia, recessive type

[Clinical features: short-limbed dwarfism; fine, sparse hair; hypermobility of the smaller joints with short phalanges; immunodeficiency]

[Inheritance: autosomal recessive]


Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene	Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene	Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene
Journal of Medical Genetics	Journal of Medical Genetics	Journal of Medical Genetics

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Edited by Aldo Campana, February 8, 2010