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Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome

Trichorhinophalangeal syndrome (TRPS), a type of skeletal dysplasia, is characterized by a triad of dysmorphic (bulbous nose and large ears); ectodermal (thin and sparse hair); and skeletal (short stature and cone-shaped epiphyses) findings, and this combination is helpful for early diagnosis and ap...

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Podrobná bibliografie
Vydáno v:Case Rep Pediatr
Hlavní autoři: Nicolescu, Corina Ramona, Kasongo, Laura, Rausin, Léon
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi 2018
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6280227/
https://ncbi.nlm.nih.gov/pubmed/30584486
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2018/5189062
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