Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees
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DOI: 10.1002/mgg3.486
Abstract: Congenital bilateral absence of the vas deferens (CBAVD) is an important cause of obstructive azoospermia and male infertility. Mutations of CFTR caused the majority of CBAVD cases, and ADGRG2 was recently identified as a new… read more here.
Keywords: causing cbavd; cftr causing; heterozygous mutations; cbavd ... See more keywords
SLC9A3 Affects Vas Deferens Development and Associates with Taiwanese Congenital Bilateral Absence of the Vas Deferens
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DOI: 10.1155/2019/3562719
Abstract: Background The pathophysiology of Taiwanese congenital bilateral absence of the vas deferens (CBAVD) is different from that in Caucasians. In particular, major cystic fibrosis transmembrane conductance regulator (CFTR) mutations and cystic fibrosis are absent in… read more here.
Keywords: vas deferens; taiwanese congenital; slc9a3; congenital bilateral ... See more keywords
SCNN1B and CA12 play vital roles in occurrence of congenital bilateral absence of vas deferens (CBAVD)
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DOI: 10.4103/aja.aja_112_18
Abstract: including physical examination, rectal ultrasound examination, and basal hormonal examination. Consequently, aside from the absence of bilateral vas deferens and an elevated sweat chloride concentration (213.50 mmol l−1) detected only in the patient (Figure 1a… read more here.
Keywords: gene; cbavd; absence vas; vas deferens ... See more keywords