A Non-pathogenic Pseudoautosomal Region 1 Copy Number Variant Downstream of SHOX
Overview
Affiliations
Unbalanced X;9 translocation in an infertile male with de novo duplication Xp22.31p22.33.
Roumelioti F, Louizou E, Karras S, Neroutsou R, Velissariou V, Gagos S J Assist Reprod Genet. 2019; 36(4):769-775.
PMID: 30675680 PMC: 6505016. DOI: 10.1007/s10815-019-01405-0.
Benito-Sanz S, Belinchon-Martinez A, Aza-Carmona M, de la Torre C, Huber C, Gonzalez-Casado I J Hum Genet. 2016; 62(2):229-234.
PMID: 27604558 DOI: 10.1038/jhg.2016.113.
Analysis of common SHOX gene sequence variants and ~4.9-kb PAR1 deletion in ISS patients.
Solc R, Hirschfeldova K, Kebrdlova V, Baxova A J Genet. 2014; 93(2):505-8.
PMID: 25189248 DOI: 10.1007/s12041-014-0375-y.