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Analysis of MLL2 genein the first Brazilian family with Kabuki syndrome
Most cases with Kabuki syndrome (KS) have been reported sporadically, however familial cases of KS are described showing evidence that this syndrome is inherited as a dominant trait with variable expressivity. We report on two related individuals with facial findings characteristic of Kabuki syndrom...
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| Hlavní autoři: | , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2012
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3724514/ https://ncbi.nlm.nih.gov/pubmed/22740433 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35454 |
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