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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...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4641370/ https://www.ncbi.nlm.nih.gov/pubmed/26554554 http://dx.doi.org/10.1186/s12881-015-0251-5 |