Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings

Author:

Lugli Licia,Ciancia Silvia,Bertucci Emma,Lucaccioni Laura,Calabrese Olga,Madeo Simona,Berardi Alberto,Iughetti Lorenzo

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference19 articles.

1. Evolutionary comparison provides evidence for pathogenicity of RMRP mutations;Bonafé;PLoS Genet.,2005

2. Inborn error working party of the European bone marrow transplantation group;Bordon;Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation. Blood,2010

3. Foetal radiography for suspected skeletal dysplasia: technique, normal appearances, diagnostic approach;Calder;Pediatr. Radiol.,2015

4. Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation;Crahes;Eur. J. Med. Genet.,2013

5. Cartilage-hair hypoplasia Syndrome : implications for prenatal diagnosis;Dungan;Fetal Diagn. Ther.,1996

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