Cargando…
The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations
BACKGROUND: An isochromosome of the long arm of chromosome 7, i(7)(q10), and an interstitial deletion of the long arm of chromosome 20, del(20)(q), are the most frequent anomalies in the bone marrow of patients with Shwachman-Diamond syndrome, which is caused in most cases by mutations of the SBDS g...
Autores principales: | Khan, Abdul Waheed, Kennedy, Alyssa, Furutani, Elissa, Myers, Kasiani, Frattini, Annalisa, Acquati, Francesco, Roccia, Pamela, Micheloni, Giovanni, Minelli, Antonella, Porta, Giovanni, Cipolli, Marco, Cesaro, Simone, Danesino, Cesare, Pasquali, Francesco, Shimamura, Akiko, Valli, Roberto |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8611838/ https://www.ncbi.nlm.nih.gov/pubmed/34819134 http://dx.doi.org/10.1186/s13039-021-00575-w |
Ejemplares similares
-
Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome
por: Taha, Ibrahim, et al.
Publicado: (2022) -
Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype
por: Khan, Abdul Waheed, et al.
Publicado: (2020) -
Enhanced p53 Levels Are Involved in the Reduced Mineralization Capacity of Osteoblasts Derived from Shwachman–Diamond Syndrome Subjects
por: Frattini, Annalisa, et al.
Publicado: (2021) -
Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0–8 years old
por: Cipolli, Marco, et al.
Publicado: (2019) -
Hematologic complications with age in Shwachman-Diamond syndrome
por: Furutani, Elissa, et al.
Publicado: (2022)