A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient-Reference-Cited by-全球学者库

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A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient

Published:2017-06-14 Issue:1 Volume:10 Page:
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Liang Siying,Jiang Nan,Li Shuo,Jiang Xiaohu,Yu Dongyi

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry (medical),Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Link

http://link.springer.com/content/pdf/10.1186/s13039-017-0324-6.pdf

Reference12 articles.

1. Ayazi S. Choroideremia, obesity, and congenital deafness. Am J Ophthalmol. 1981;92(1):63–9.

2. Nussbaum RL, Lesko JG, Lewis RA, Ledbetter SA, Ledbetter DH. Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. Proc Natl Acad Sci U S A. 1987;84(18):6521–5.

3. Song MH, Lee HK, Choi JY, Kim S, Bok J, Kim UK. Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA. Clin Genet. 2010;78(6):524–32.

4. Firth HV, Richards SM, Bevan AP, et al. DECIPHER: database of chromosomal imbalance and phenotype in humans using Ensembl resources. Am J Hum Genet. 2009;84(4):524–33.

5. Bach I, Robinson D, Thomas N, Ropers HH, Cremers FP. Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21. Hum Genet. 1992;89(6):620–4.

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1. Night blindness and hearing loss associated with choroideremia;Clinical and Experimental Optometry;2023-06-22

2. Choroideremia: Toward Regulatory Approval of Retinal Gene Therapy;Cold Spring Harbor Perspectives in Medicine;2023-06-05

3. A novel mutation of X‐linked recessive deafness gene POU3F4 in a boy with congenital deafness;Laryngoscope Investigative Otolaryngology;2022-07

4. Xq21.1q21.31 Duplication in Two Male Siblings;Molecular Syndromology;2021-11-01

5. Prenatal Diagnosis of Sex Chromosome Abnormalities;Genetic Disorders and the Fetus;2021-04-20

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