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Article

Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation.

European journal of medical genetics - 1 Jul 2013

Crahes Marie, Saugier-Veber Pascale, Patrier Sophie, Aziz Moutaz, Pirot Nathalie, Brasseur-Daudruy Marie, Layet Valérie, Frébourg Thierry, Laquerrière Annie

Abstract excerpt

Cartilage-hair-hypoplasia is a rare autosomal recessive metaphyseal dysplasia due to RMRP (the RNA component of the RNase MRP ribonuclease mitochondrial RNA processing complex) gene mutations. So far, about 100 mutations have been reported in the promoter and the transcribed regions. Clinical characteristics include short-limbed short stature, sparse hair and defective cell-mediated immunity. We report herein the...

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PMID: 23643676
DOI: 10.1016/j.ejmg.2013.04.004

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