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

Cartilage-hair hypoplasia syndrome (CHH) is an autosomal recessive disorder caused by pathogenic variants of the RMRP gene and characterized by metaphyseal bone dysplasia associated with hypotrichosis, immunodeficiency, and predisposition to malignancy. However, the genotype-phenotype correlation in...

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Veröffentlicht in:Mol Syndromol
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: S. Karger AG 2020
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6997793/
https://ncbi.nlm.nih.gov/pubmed/32021596
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000501892
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