Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum

Variants in the mitochondrial alanyl-tRNA synthetase 2 gene AARS2 (OMIM 612035) are associated with infantile mitochondrial cardiomyopathy or later-onset leukoencephalopathy with premature ovarian insufficiency. Here, we report two newborn siblings who died soon after birth with primary pulmonary hy...

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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: Kiraly-Borri, Catherine, Jevon, Gareth, Ji, Weizhen, Jeffries, Lauren, Ricciardi, Jamie-Lee, Konstantino, Monica, Ackerman, Kate G., Lakhani, Saquib A.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2019
Assuntos:
Research Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6549552/
https://ncbi.nlm.nih.gov/pubmed/30819764
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a003699
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