Diagnosis of chromosomal abnormalities in a patient with thanatophoric dysplasia (TD) type I: The first report describing an important association between cytogenetic findings and TD

BACKGROUND: Thanatophoric dysplasia (TD) is the most lethal and most severe type of dysplasia. It has distinct features, the most important of which is short tubular bones and short ribs with platyspondyly, allowing a precise radiologic and prenatal ultrasonographic diagnosis. It has been reported t...

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Detalles Bibliográficos
Autores principales: Turgut, Mehmet, Demirhan, Osman, Tunc, Erdal, Bucak, Ibrahim Hakan, Canoz, Perihan Yasemen, Temiz, Fatih, Tumgor, Gokhan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3615938/
https://www.ncbi.nlm.nih.gov/pubmed/23569503
http://dx.doi.org/10.12659/AJCR.883026

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3615938/
https://www.ncbi.nlm.nih.gov/pubmed/23569503
http://dx.doi.org/10.12659/AJCR.883026

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