Identification of Novel and Recurrent <b><i>RMRP</i></b> Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome-Reference-Cited by-同舟云学术

Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome

Published:2019 Issue:5 Volume:10 Page:255-263
ISSN:1661-8769
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Gomes Maria E.,Calatrava Paternostro Luiza,Moura Valéria R.,Antunes Deborah,Caffarena Ernesto R.,Horovitz Dafne,Sanseverino Maria T.,Ferraz Leal Gabriela,Felix Têmis M.,Pontes Cavalcanti Denise,Clinton Llerena Jr. Juan,Gonzalez Sayonara

Publisher

S. Karger AG

Subject

Genetics(clinical),Genetics

Reference21 articles.

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3. Bonafé L, Dermitzakis ET, Unger S, Greenberg CR, Campos-Xavier BA, et al: Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. PLoS Genet 1:e47 (2005).

4. Darty K, Denise A, Ponty Y: VARNA: Interactive drawing and editing of the RNA secondary structure. Bioinformatics 25:1974-1975 (2009).

5. Dávila López M, Rosenblad MA, Samuelsson T: Conserved and variable domains of RNase MRP RNA. RNA Biol 6:208-220 (2009).

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1. Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients;Scientific Reports;2024-06-11

2. Lymphomas in cartilage-hair hypoplasia – A case series of 16 patients reveals advanced stage DLBCL as the most common form;Frontiers in Immunology;2022-09-23

3. Immunodeficiency in cartilage‐hair hypoplasia: Pathogenesis, clinical course and management;Scandinavian Journal of Immunology;2020-06-22