SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

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Detalles Bibliográficos
Autores principales: Borozdin, W, Boehm, D, Leipoldt, M, Wilhelm, C, Reardon, W, Clayton-Smith, J, Becker, K, Muhlendyck, H, Winter, R, Giray, O, Silan, F, Kohlhase, J
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Group 2004
Materias:
Online Mutation Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735888/
https://ncbi.nlm.nih.gov/pubmed/15342710
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.019901
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