טוען...
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome
Melnick-Needles syndrome (MNS) is a rare X-linked bone dysplasia characterised by facial dysmorphology and radiographic abnormalities [Melnick and Needles, 1966;97:39–48]. Previously, all published cases of MNS were associated with only 4 mutations [Robertson et al., 2003;33:487–491; Santos et al.,...
שמור ב:
| Main Authors: | , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
S. Karger AG
2010
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2957847/ https://ncbi.nlm.nih.gov/pubmed/21031081 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000320184 |
| תגים: |
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