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

Parag Tamhankar | Zendy; Lakshmi Vasudevan | Zendy; Shweta Kondurkar | Zendy; K Yashaswini | Zendy; Sunil Kumar Agarwalla | Zendy; Mohandas Nair | Zendy; Ramkumar TV | Zendy; Nitin Chauba | Zendy; Vasundhara Sridhar Chennuri | Zendy

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

Author(s) -

Parag Tamhankar,

Lakshmi Vasudevan,

Shweta Kondurkar,

K Yashaswini,

Sunil Kumar Agarwalla,

Mohandas Nair,

Ramkumar TV,

Nitin Chauba,

Vasundhara Sridhar Chennuri

Publication year - 2014

Publication title -

journal of clinical research in pediatric endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.566

H-Index - 35

eISSN - 1308-5735

pISSN - 1308-5727

DOI - 10.4274/jcrpe.1233

Subject(s) - micropenis , medicine , exon , short stature , proband , genetics , tall stature , dwarfism , endocrinology , mutation , anatomy , gene , biology , hypospadias

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 responsible for the autosomal dominant (AD) form of RS. In AD Robinow patients, oral manifestations are more prominent, while hemivertebrae and scoliosis rarely occur and facial abnormalities tend to be milder.

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