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Sclerocornea in a Patient with Van Den Ende–Gupta Syndrome Homozygous for a SCARF2 Microdeletion
Van den Ende–Gupta Syndrome (VDEGS) is an autosomal recessive disorder characterized by blepharophimosis, distinctive nose, hypoplastic maxilla, and skeletal abnormalities. Using homozygosity mapping in four VDEGS patients from three consanguineous families, Anastacio et al. [Anastacio et al. (2010)...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Am J Med Genet A |
|---|---|
| Prif Awduron: | , , , , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
2014
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4294186/ https://ncbi.nlm.nih.gov/pubmed/24478002 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36425 |
| Tagiau: |
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