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Breakpoints around the HOXD cluster result in various limb malformations

BACKGROUND: Characterisation of disease associated balanced chromosome rearrangements is a promising starting point in the search for candidate genes and regulatory elements. METHODS: We have identified and investigated three patients with limb abnormalities and breakpoints involving chromosome 2q31...

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Detalhes bibliográficos
Main Authors: Dlugaszewska, B, Silahtaroglu, A, Menzel, C, Kübart, S, Cohen, M, Mundlos, S, Tümer, Z, Kjaer, K, Friedrich, U, Ropers, H‐H, Tommerup, N, Neitzel, H, Kalscheuer, V M
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564623/
https://ncbi.nlm.nih.gov/pubmed/15980115
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.033555
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