Llwytho...
Identification of a Novel 14q13.3 Deletion Involving the SLC25A21 Gene Associated with Familial Synpolydactyly
Synpolydactyly is a relatively rare malformation. Recently, we came across a male infant with a familial synpolydactyly of the hands and feet. As most familial synpolydactyly syndromes have not been linked to any specific mutations, we felt further investigation was warranted. Using microarray and f...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Mol Syndromol |
|---|---|
| Prif Awduron: | , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
S. Karger AG
2012
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4329497/ https://ncbi.nlm.nih.gov/pubmed/25759628 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000339177 |
| Tagiau: |
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