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Article

The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family.

Clinical dysmorphology - 1 Apr 2017

Iqbal Muddassar, Muhammad Niaz, Ali Sheikh A, Kostjukovits Svetlana, Mäkitie Outi, Naz Sadaf

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 27740950
DOI: 10.1097/MCD.0000000000000155

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Related research

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The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family.PMID 27740950Read ↗

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

Cartilage-hair hypoplasia in a patient with compound heterozygous variants in the RMRP gene: A case report.Semantic proximity Read ↗

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.Semantic proximity Read ↗

RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.Semantic proximity Read ↗

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 ↗

Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype.Semantic proximity Read ↗

RMRP mutations in cartilage-hair hypoplasia.Semantic proximity Read ↗

[Cartilage hair hypoplasia with severe combined immunodeficiency caused by a novel RMRP gene variant].Semantic proximity Read ↗

Novel mutation in boy with cartilage-hair hypoplasia.Semantic proximity Read ↗

RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.Semantic proximity Read ↗

[Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases].Semantic proximity Read ↗

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.Semantic proximity Read ↗

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