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Mutations in TMEM231 cause Meckel–Gruber syndrome
BACKGROUND: Meckel–Gruber syndrome (MKS) is a genetically heterogeneous severe ciliopathy characterised by early lethality, occipital encephalocele, polydactyly, and polycystic kidney disease. PURPOSE: To report genetic analysis results in two families in which all known MKS diseases genes have been...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3585488/ https://ncbi.nlm.nih.gov/pubmed/23349226 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2012-101431 |
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