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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...
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| Vydáno v: | Mol Cytogenet |
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| Hlavní autoři: | , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2016
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5034553/ https://ncbi.nlm.nih.gov/pubmed/27688808 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-016-0282-4 |
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