Cargando…
Underdiagnosed Roifman syndrome manifested as non‐ischaemic cardiomyopathy: a case report
Roifman syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia, immunodeficiency, and retinal dystrophy. However, very rarely, with only one case reported to date, a patient with Roifman syndrome may develop cardiomyopathy in their l...
Autores principales: | Xi, Qianlan, Plaza Enriquez, Leidy J., Tanni, Nusrat Uddin, Patsias, Iani |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10567627/ https://www.ncbi.nlm.nih.gov/pubmed/37666272 http://dx.doi.org/10.1002/ehf2.14518 |
Ejemplares similares
-
Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome
por: Hallermayr, Ariane, et al.
Publicado: (2018) -
A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome
por: Dinur Schejter, Yael, et al.
Publicado: (2017) -
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing
por: Merico, Daniele, et al.
Publicado: (2015) -
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
por: Bogaert, Delfien J., et al.
Publicado: (2017) -
Testicular Sarcoidosis: An Underdiagnosed Manifestation That Poses Unique Challenges
por: Choksi, Ujval S, et al.
Publicado: (2022)