A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations

BACKGROUND: The deletion of the chromosome 4p16.3 Wolf-Hirschhorn syndrome critical region (WHSCR-2) typically results in a characteristic facial appearance, varying intellectual disability, stereotypies and prenatal onset of growth retardation, while gains of the same chromosomal region result in a...

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Bibliografski detalji
Izdano u:BMC Med Genet
Glavni autori: Iype, Thomas, Alakbarzade, Vafa, Iype, Mary, Singh, Royana, Sreekantan-Nair, Ajith, Chioza, Barry A., Mohapatra, Tribhuvan M., Baple, Emma L., Patton, Michael A., Warner, Thomas T., Proukakis, Christos, Kulkarni, Abhi, Crosby, Andrew H.
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2015
Teme:
Research Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4641370/
https://ncbi.nlm.nih.gov/pubmed/26554554
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0251-5
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