Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35730/fullpdf
Reference21 articles.
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2. Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5;Bellanné-Chantelot;Diabetes,2005
3. Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: Two case reports;Bernardini;Orphanet J Rare Dis,2009
4. Anomalies of the TCF2 gene are the main cause of the fetal bilateral hyperechogenic kidneys;Decramer;J Am Soc Nephrol,2007
5. Hepatocyte nuclear factor-1 beta gene deletions-A common cause of renal disease;Edghill;Nephrol Dial Transplant,2008
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1. 3q29 microduplication syndrome: New evidence for the refinement of the critical region;Molecular Genetics & Genomic Medicine;2023-01-24
2. A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation;American Journal of Medical Genetics Part A;2022-12-22
3. Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience;BMC Medical Genomics;2022-12-21
4. Clinical and Genetic Characteristics of a Cohort with Distal Vaginal Atresia;International Journal of Molecular Sciences;2022-10-25
5. Prenatal ultrasound phenotypic and genetic etiology of the 17q12 microduplication syndrome;Frontiers in Pediatrics;2022-08-10
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