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Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex
BACKGROUND: Van der Woude syndrome (MIM: 119300, VWS) is a dominantly inherited and the most common orofacial clefting syndrome; it accounts for ~2 % of all cleft lip and palate cases. Intellectual disability (ID) is characterized by significant limitations, both in intellectual functioning (cogniti...
Autores principales: | Rincic, Martina, Rados, Milan, Krsnik, Zeljka, Gotovac, Kristina, Borovecki, Fran, Liehr, Thomas, Brecevic, Lukrecija |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4761178/ https://www.ncbi.nlm.nih.gov/pubmed/26900403 http://dx.doi.org/10.1186/s13039-016-0221-4 |
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