Bardet Biedel Syndrome: A Very Rare Entity in India

Bardet Biedel Syndrome (BBS) is a rare autosomal recessive disease which is characterized by obesity, retinitis pigmentosa, polydactyly, neuro-developmental retardation and renal defects amongst others. It is a genetically heterogeneous ciliopathic disorder with inter and intra familial variations....

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Hlavní autoři: Dosi, Rupal V., Bhatt, Nikita R., Ambaliya, Annirudh P., Sonune, Nitin N., Patell, Rushad D.
Médium: Artigo
Jazyk:Inglês
Vydáno: JCDR Research and Publications (P) Limited 2013
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3809665/
https://ncbi.nlm.nih.gov/pubmed/24179926
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7860/JCDR/2013/5684.3388
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