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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.,...

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Detalhes bibliográficos
Main Authors: Foley, C., Roberts, K., Tchrakian, N., Morgan, T., Fryer, A., Robertson, S.P., Tubridy, N.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2010
Assuntos:
Acesso em linha: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
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