Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?

BACKGROUND: Chromosome 6q duplication syndrome is a chromosome abnormality associated with characteristic phenotypic features such as intellectual disability (ID), short stature, feeding difficulties, microcephaly, dysmorphic features (prominent forehead, downslanting palpebral fissures, flat nasal...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Mol Cytogenet
Main Authors: Srebniak, Malgorzata I., van Zutven, Laura J. C. M., Petit, Florence, Bouquillon, Sonia, van Heel, Ilse P. J., Knapen, Maarten F. C. M., Cornette, Jerome M. J., Kremer, Andreas, Van Opstal, Diane, Diderich, Karin E. M.
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2016
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4891832/
https://ncbi.nlm.nih.gov/pubmed/27274769
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-016-0253-9
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki