A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14

Spondylocarpotarsal synostosis syndrome is a rare autosomal recessive disorder characterised by vertebral fusions, frequently manifesting as an unsegmented vertebral bar, as well as fusions of the carpal and tarsal bones. In a study of three consanguineous families and one non-consanguineous family,...

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Detalhes bibliográficos
Main Authors: Steiner, C, Ehtesham, N, Taylor, K, Sebald, E, Cantor, R, King, L, Guo, X, Hang, T, Hu, M, Cui, J, Friedman, B, Norato, D, Allanson, J, Honeywell, C, Mettler, G, Field, F, Lachman, R, Cohn, D, Krakow, D
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2004
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735744/
https://ncbi.nlm.nih.gov/pubmed/15060099
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2003.012252
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