A Newly Recognized Syndrome With Characteristic Facial Features, Skeletal Dysplasia, and Developmental Delay

We describe a series of seven male patients from six different families with skeletal dysplasia, characteristic facial features, and developmental delay. Skeletal findings include patellar dislocation, short tubular bones, mild metaphyseal changes, brachymetacarpalia with stub thumbs, short femoral...

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Detalhes bibliográficos
Main Authors: Baratela, Wagner A.R., Bober, Michael B., Tiller, George E., Okenfuss, Ericka, Ditro, Colleen, Duker, Angela, Krakow, Deborah, Stabley, Deborah L., Sol-Church, Katia, Mackenzie, William, Lachman, Ralph, Scott, Charles I.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4164294/
https://ncbi.nlm.nih.gov/pubmed/22711505
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35445
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