Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism.
Liu W, Wong JK, He Q, Wong EH, Tang CS, Zhang R, So MT, Wong KK, Nicholls J, Cherny SS, Sham PC, Tam PK, Garcia-Barcelo MM, Xia H.
Liu W, et al.
BMC Med Genet. 2015 Jul 16;16:49. doi: 10.1186/s12881-015-0189-7.
BMC Med Genet. 2015.
PMID: 26179878
Free PMC article.
In DOL-AS patients, the genetic defect consists of a deletion involving the COL4A5 and COL4A6 genes on the X chromosome. ...CONCLUSIONS: This is the first report of gonadosomal mosaicism associated to DOL-AS....
In DOL-AS patients, the genetic defect consists of a deletion involving the COL4A5 and COL4A6 genes on the X chromosome. ...CONCLUSIO …