Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature-Reference-Cited by-同舟云学术

Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature

Published:2015-11-09 Issue:13 Volume:35 Page:1336-1341
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat Diagn

Author:

Jones Gabriela E.¹,Mousa Hatem A.²,Rowley Helen³,Houtman Peter⁴,Vasudevan Pradeep C.¹

Affiliation:

1. Clinical Genetics Department; University Hospitals Leicester NHS Trust; Leicester UK

2. Department of Fetal and Maternal Medicine; University Hospitals Leicester NHS Trust; Leicester UK

3. Leicester Medical School; University of Leicester; Leicester UK

4. Department of Paediatric Nephrology; University Hospitals Leicester NHS Trust; Leicester UK

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/pd.4701/fullpdf

Reference27 articles.

1. Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys;Decramer;J Am Soc Nephrol,2007

2. Mutations in hepatocyte nuclear factor-1beta and their related phenotypes;Edghill;J Med Genet,2006

3. 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;Bellanne-Chantelot;Diabetes,2005

4. Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort;Ulinski;J Am Soc Nephrol,2006

5. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy;Mefford;Am J Hum Genet,2007

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4. Prenatal Genetic Analysis of Fetal 17q12 Microdeletion Syndrome and Relation to Kidney Abnormalities;2023-05-25

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