RMRP gene sequence analysis confirms a cartilage‐hair hypoplasia variant with only skeletal manifestations and reveals a high density of single‐nucleotide polymorphisms
- 1 February 2002
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 61 (2) , 146-151
- https://doi.org/10.1034/j.1399-0004.2002.610210.x
Abstract
Mutations in the RMRP gene that codes for an RNA subunit of the MRP RNAse complex are the cause of cartilage‐hair hypoplasia (CHH; MIM 250250). We tested the hypothesis that recessive metaphyseal dys...Keywords
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