HIGHLIGHTS
- who: Ewelina Bukowska-Olech from the Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland have published the Article: SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing, in the Journal: (JOURNAL)
- what: We have shed light on the one-allele CNV triplication occurrence that should be considered when a higher probe (over duplication range) signal is noted.
SUMMARY
Isolated split-hand/ foot malformation (SHFM), i.e., ectrodactyly, is a heterogeneous group of limb anomalies that manifest either as mild single phalanx hypoplasia or a complete aplasia of phalanges . . .
If you want to have access to all the content you need to log in!
Thanks :)
If you don't have an account, you can create one here.