A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature. [electronic resource]
Producer: 20180508Description: 237 p. digitalISSN:- 1752-1947
- Arthritis -- complications
- Cataract -- diagnosis
- Child
- Child, Preschool
- Cleft Palate -- etiology
- Collagen Type II -- genetics
- Collagen Type XI -- deficiency
- Connective Tissue Diseases -- complications
- Craniofacial Abnormalities -- diagnosis
- Diagnosis, Differential
- Growth Disorders -- etiology
- Hearing Loss, Sensorineural -- complications
- Humans
- Male
- Micrognathism -- etiology
- Mutation
- Osteochondrodysplasias -- diagnosis
- Palate, Soft -- abnormalities
- Phenotype
- Retinal Detachment -- complications
No physical items for this record
Publication Type: Case Reports; Journal Article; Review
There are no comments on this title.
Log in to your account to post a comment.