Inactivating Mutations in ESCO2 Cause SC Phocomelia and Roberts Syndrome: No Phenotype-Genotype Correlation

The rare, autosomal recessive Roberts syndrome (RBS) is characterized by tetraphocomelia, profound growth deficiency of prenatal onset, craniofacial anomalies, microcephaly, and mental deficiency. SC phocomelia (SC) has a milder phenotype, with a lesser degree of limb reduction and with survival to...

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Autores principales: Schüle, Birgitt, Oviedo, Angelica, Johnston, Kathreen, Pai, Shashidhar, Francke, Uta
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2005
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1285169/
https://ncbi.nlm.nih.gov/pubmed/16380922
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