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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Detalles Bibliográficos
Autores principales: Candamourty, Ramesh, Venkatachalam, Suresh, Karthikeyan, B., Babu, M. R. Ramesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3510923/
https://www.ncbi.nlm.nih.gov/pubmed/23225991
http://dx.doi.org/10.4103/0976-9668.101936

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3510923/
https://www.ncbi.nlm.nih.gov/pubmed/23225991
http://dx.doi.org/10.4103/0976-9668.101936

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