3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome

We report the identification of six patients with 3q29 microdeletion syndrome. The clinical phenotype is variable despite an almost identical deletion size. The phenotype includes mild-to-moderate mental retardation, with only slightly dysmorphic facial features that are similar in most patients: a...

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Hlavní autoři: Willatt, Lionel , Cox, James , Barber, John , Cabanas, Elisabet Dachs , Collins, Amanda , Donnai, Dian , FitzPatrick, David R. , Maher, Eddy , Martin, Howard , Parnau, Josep , Pindar, Lesley , Ramsay, Jacqueline , Shaw-Smith, Charles , Sistermans, Erik A. , Tettenborn, Michael , Trump, Dorothy , de Vries, Bert B. A. , Walker, Kate , Raymond, F. Lucy 
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Human Genetics 2005
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226188/
https://ncbi.nlm.nih.gov/pubmed/15918153
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