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Terminal Osseous Dysplasia With Pigmentary Defects (TODPD): Follow-Up of the First Reported Family, Characterization of the Radiological Phenotype, and Refinement of the Linkage Region

Terminal osseous dysplasia with pigmentary defects (TODPD) is an X-linked dominant syndrome with distal limb anomalies and pigmentary skin defects. We have previously described this syndrome in several females from a large, four-generation pedigree. The presentation in the affected patients included...

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Detalhes bibliográficos
Main Authors: Brunetti-Pierri, Nicola, Lachman, Ralph, Lee, Kwanghyuk, Leal, Suzanne M., Piccolo, Pasquale, Van den Veyver, Ignatia B., Bacino, Carlos A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2909110/
https://ncbi.nlm.nih.gov/pubmed/20583181
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33470
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