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Trichorhinophalangeal syndrome type 1: A case report with literature review

Trichorhinophalangeal syndrome is a very rare genetic disorder, where damage and mutation to the number 8 chromosome affects sufferers in numerous ways. The syndrome has three types, all characterized by abnormally short stature, sparse hair, short deformed fingers with cone-shaped epiphyses visible...

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Hlavní autoři: Candamourty, Ramesh, Venkatachalam, Suresh, Karthikeyan, B., Babu, M. R. Ramesh
Médium: Artigo
Jazyk:Inglês
Vydáno: Medknow Publications & Media Pvt Ltd 2012
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3510923/
https://ncbi.nlm.nih.gov/pubmed/23225991
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0976-9668.101936
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