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19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome
BACKGROUND: Overgrowth syndromes represent clinically and genetically heterogeneous conditions characterized by a wide spectrum of malformations, tall stature, intellectual disability and/or macrocephaly. RESULTS: In a cohort of four clinically characterized patients with overgrowth syndrome without...
Autores principales: | , , , , , , , |
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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/PMC5034553/ https://www.ncbi.nlm.nih.gov/pubmed/27688808 http://dx.doi.org/10.1186/s13039-016-0282-4 |