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A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China
Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive condition characterized by renal cysts and variably associated features, including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Genetic heterogeneity...
Sparad:
| I publikationen: | Int J Clin Exp Pathol |
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| Huvudupphovsmän: | , , , , , , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
e-Century Publishing Corporation
2015
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4503111/ https://ncbi.nlm.nih.gov/pubmed/26191240 |
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