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Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome
Meier-Gorlin syndrome (ear, patella, short stature syndrome) is an autosomal recessive primordial dwarfism syndrome characterised by absent/hypoplastic patellae and markedly small ears1-3. Both pre and post-natal growth are impaired in this disorder and although microcephaly is often evident, intell...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3068194/ https://www.ncbi.nlm.nih.gov/pubmed/21358632 http://dx.doi.org/10.1038/ng.775 |