De novo c.2455C>T mutation of NPR2 gene in a fetus with shortened long bones and a ventricular septal defect conceived by a mother with a fragile site at 16q22.1 and a father with a rare heterochromatic variant of chromosome 4 from Vietnam-Reference-Cited by-同舟云学术

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De novo c.2455C>T mutation of NPR2 gene in a fetus with shortened long bones and a ventricular septal defect conceived by a mother with a fragile site at 16q22.1 and a father with a rare heterochromatic variant of chromosome 4 from Vietnam

Published:2021-03-13 Issue:4 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol. Genet. Genomic Med.

Author:

Ha Thi Minh Thi¹²^ORCID,Nguyen Tran Thao Nguyen³,Nguyen Thi Mai Ngan¹,Nguyen Huu Nguyen⁴

Affiliation:

1. Department of Medical Genetics Hue University of Medicine and PharmacyHue University Hue Vietnam

2. Center of Prenatal and Neonatal Screening‐Diagnosis Hue University of Medicine and Pharmacy Hospital Hue Vietnam

3. Department of Obstetrics and Gynecology Hue University of Medicine and PharmacyHue University Hue Vietnam

4. Gene Solutions Joint Stock Company Ho Chi Minh city Vietnam

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1637

Reference16 articles.

1. Spontaneous expression of FRA16B in a non-consanguineous couple experiencing multiple fetal losses

2. Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux

3. Deficiency of Natriuretic Peptide Receptor 2 Promotes Bicuspid Aortic Valves, Aortic Valve Disease, Left Ventricular Dysfunction, and Ascending Aortic Dilatations in Mice

4. A rare heterochromatic variant of chromosome 4.

5. Fragile chromosome 16(q22) cause a balanced translocation at the same point

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