A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype
Crossref DOI link:
Update policy: https://doi.org/10.1007/SPRINGER_CROSSMARK_POLICY
Nocera, M. D.
Vismara, M. F. M.
Funding for this research was provided by:
MIUR-PRIN (prot. 2010JCWWKM_002)