טוען...
Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations
Campomelic dysplasia (CD) is an autosomal, dominantly inherited, skeletal abnormality belonging to the subgroup of bent bone dysplasias. In addition to bowed lower limbs, CD typically includes the following: disproportionate short stature, flat face, micrognathia, cleft palate, bell-shaped thorax, a...
שמור ב:
| הוצא לאור ב: | Genet Mol Biol |
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| Main Authors: | , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Sociedade Brasileira de Genética
2015
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4415563/ https://ncbi.nlm.nih.gov/pubmed/25983619 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/S1415-475738120140147 |
| תגים: |
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