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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4891832/
https://www.ncbi.nlm.nih.gov/pubmed/27274769
http://dx.doi.org/10.1186/s13039-016-0253-9

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