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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Syndromol
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: S. Karger AG 2020
Pynciau:
Original Article
Mynediad Ar-lein: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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