Cargando…
Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD11
Autores principales: | Nguyen, Amie, Lu, Henry Y., Turvey, Stuart E., Snow, Andrew L. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer US
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9894509/ https://www.ncbi.nlm.nih.gov/pubmed/36729250 http://dx.doi.org/10.1007/s10875-023-01440-8 |
Ejemplares similares
-
Autosomal Recessive Noonan Syndrome Associated with Biallelic
LZTR1Variants
por: Johnston, Jennifer J., et al.
Publicado: (2018) -
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5
por: Rajan, Deepa S., et al.
Publicado: (2022) -
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
por: Van de Sompele, Stijn, et al.
Publicado: (2018) -
Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder
por: Mattioli, Francesca, et al.
Publicado: (2021) -
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
por: Van de Sompele, Stijn, et al.
Publicado: (2019)