Isolated 6q terminal deletions: An emerging new syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference21 articles.
1. Subtelomeric rearrangements detected in patients with idiopathic mental retardation
2. Developmental abnormalities associated with long arm deletion of chromosome No. 6
3. Characterization of FRA6E and its potential role in autosomal recessive juvenile parkinsonism and ovarian cancer
4. Calibration of 6q subtelomere deletions to define genotype/phenotype correlations
5. Deletion of the long arm of chromosome 6: two new patients and literature review
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1. HNRNPU's multi‐tasking is essential for proper cortical development;BioEssays;2023-07-13
2. The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1;Orphanet Journal of Rare Diseases;2023-03-19
3. Hydrocephalus and genetic disorders;Cerebrospinal Fluid and Subarachnoid Space;2023
4. Genotype–Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature;Global Medical Genetics;2022-03-11
5. Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series;Prenatal Diagnosis;2021-12-11
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