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Article

Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene.

Indian journal of pediatrics - 1 Sept 2016

Narayanan Dhanya Lakshmi, Shukla Anju, Siddesh Anju Rani, Stephen Joshi, Srivastava Priyanka, Mandal Kausik, Phadke Shubha R

Abstract excerpt

Cartilage-hair hypoplasia is an autosomal recessive disorder, characterized by short stature, metaphyseal dysplasia, hypotrichosis and immunodeficiency. More than 90 different biallelic mutations in RMRP gene have been identified to cause this condition. Three cases previously reported from India showed novel mutations in RMRP gene. The authors report two unrelated cases with the more common g.70A > G mutation,...

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PMID: 26830278
DOI: 10.1007/s12098-015-1947-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene.PMID 26830278Read ↗

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Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.Semantic proximity Read ↗

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