A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference24 articles.
1. Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28
2. Two anonymous X-specific human sequences detecting restriction fragment length polymorphisms in region Xq26?qter
3. Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome
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1. Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview;Molecular Cytogenetics;2022-07-28
2. Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes;Genes;2021-10-22
3. Generation of Induced Pluripotent Stem Cells from a Female Patient with a Xq27.3-q28 Deletion to Establish Disease Models and Identify Therapies;Cellular Reprogramming;2020-08-01
4. Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation;Human Mutation;2020-06-19
5. Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment;International Journal of Molecular Sciences;2020-02-13
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