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

Ha, TMT; Nguyen, TTN; Nguyen, TMN; Nguyen, HN

Ha, TMT (corresponding author), Hue Univ, Hue Univ Med & Pharm, Dept Med Genet, Hue, Vietnam.

MOLECULAR GENETICS & GENOMIC MEDICINE, ; ():

Abstract

Background A heterozygous natriuretic peptide receptor 2 (NPR2) gene c.2455C>T mutation was identified as a cause of familial idiopathic short stat......

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