Disease: Chromosome 7- monosomy 7q21
- 7q21.11 Microdeletion in a Neonate With Goldenhar Syndrome: Case Report and a Literature Review
- A 7q21.11 microdeletion presenting with apparent intellectual disability without epilepsy
- A novel description of a syndrome consisting of 7q21.3 deletion including DYNC1I1 with preserved DLX5/6 without ectrodactyly: a case report
- Allogeneic hematopoietic SCT and mechanical heart valve: feasibility of reduced toxicity myeloablative conditioning
- Array comparative genomic hybridization characterization of multiple interstitial deletions involving 7p22.1, 7q11.23, 7q21.3-q22.1, 19p13.3-p12, and 19q13.11-q13.43 in a fetus associated with split hand-foot malformation. Role of EPS15L1 in pathogenesis
- Clinical feature and pathogenic analysis of a fetus with split hand-foot malformation
- Constitutional <em>SAMD9L</em> mutations cause familial myelodysplastic syndrome and transient monosomy 7
- Deletion 7q21.2-q22.1 in a case with split hand-split foot malformation, sensorineural hearing loss and intellectual disability: Phenotype subtypes and the correlation with genotypes
- Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis
- Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7
- Identification of a cytogenetic and molecular subgroup of acute myeloid leukemias showing sensitivity to L-Asparaginase
- Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10
- L-asparaginase as an efficient salvage therapy for refractory acute myeloid leukemia with chromosome 7 abnormalities: a case series
- Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway
- Rare missense variant p.Ala505Ser in the ZAK protein observed in a patient with split-hand/foot malformation from a non-consanguineous pedigree
- Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans