Cargando…
Further Evidence of Autosomal Recessive Inheritance of RPL3L Pathogenic Variants with Rapidly Progressive Neonatal Dilated Cardiomyopathy
Neonatal dilated cardiomyopathy (DCM) is rare with high etiologic heterogeneity. Recently, biallelic, autosomal recessive, pathogenic variants in RPL3L (ribosomal protein L3-like) have been reported in the literature with severe early-onset DCM. In the present brief report, we identified two pathoge...
Autores principales: | Nannapaneni, Hemanth, Ghaleb, Stephanie, Arya, Sandeep, Gajula, Viswanath, Taylor, Mary B., Das, Bibhuti B. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8955827/ https://www.ncbi.nlm.nih.gov/pubmed/35323613 http://dx.doi.org/10.3390/jcdd9030065 |
Ejemplares similares
-
Compound Heterozygous Missense Variants in RPL3L Genes Associated with Severe Forms of Dilated Cardiomyopathy: A Case Report and Literature Review
por: Das, Bibhuti B., et al.
Publicado: (2022) -
Autosomal Recessive Inheritance: Cystic Fibrosis
por: Goldstein, D. Yitzchak, et al.
Publicado: (2017) -
Possible autosomal recessive inheritance in a neonate with Nager syndrome: Case report
por: Ibrahim, Rahaf, et al.
Publicado: (2021) -
The Autosomal Recessive Inheritance of Hereditary Gingival Fibromatosis
por: Majumder, Poulami, et al.
Publicado: (2013) -
Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation
por: Lefeber, Dirk J., et al.
Publicado: (2011)