Cartilage-hair hypoplasia

OMIM:250250
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities

Mutations

Gene Symbol	RMRP
Reference transcript	NR_003051.3
DNA Change	g.97G>A
A.A. Change
Exon/Intron
Mutation Type	substitution
Reference	Cherkaoui Jaouad I, Laarabi FZ, Chafai Elalaoui S, Lyonnet S, Henrion-Caude A, Sefiani A. Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia. Mol Syndromol. 2015 Jul;6(2):77-82. doi: 10.1159/000430970. Epub 2015 Jun 11.

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Gene Symbol	RMRP
Reference transcript	NR_003051.3
DNA Change	g.27G>C
A.A. Change
Exon/Intron
Mutation Type	substitution
Reference	Cherkaoui Jaouad I, Laarabi FZ, Chafai Elalaoui S, Lyonnet S, Henrion-Caude A, Sefiani A. Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia. Mol Syndromol. 2015 Jul;6(2):77-82. doi: 10.1159/000430970. Epub 2015 Jun 11.

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