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...

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Detalhes bibliográficos
Publicado no:Mol Cytogenet
Principais autores: Rincic, Martina, Rados, Milan, Krsnik, Zeljka, Gotovac, Kristina, Borovecki, Fran, Liehr, Thomas, Brecevic, Lukrecija
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4761178/
https://ncbi.nlm.nih.gov/pubmed/26900403
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-016-0221-4
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