Identification of Novel ROR2 Gene Mutations in Indian Children with Robinow Syndrome

Ob­jec­ti­ve: Robinow syndrome (RS) is an extremely rare genetic disorder characterized by short-limbed dwarfism, defects in vertebral segmentation and abnormalities in the head, face and external genitalia. Mutations in the ROR2 gene cause autosomal recessive RS (RRS) whereas mutations in WNT5A are...

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Detalles Bibliográficos
Autores principales: Tamhankar, Parag M, Vasudevan, Lakshmi, Kondurkar, Shweta, K, Yashaswini, Agarwalla, Sunil Kumar, Nair, Mohandas, TV, Ramkumar, Chaubal, Nitin, Chennuri, Vasundhara Sridhar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141580/
https://www.ncbi.nlm.nih.gov/pubmed/24932600
http://dx.doi.org/10.4274/jcrpe.1233

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141580/
https://www.ncbi.nlm.nih.gov/pubmed/24932600
http://dx.doi.org/10.4274/jcrpe.1233

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