A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.

Higuchi, Yousuke

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] - Journal of medical case reports Aug 2017 - 237 p. digital

Publication Type: Case Reports; Journal Article; Review

1752-1947

10.1186/s13256-017-1396-y doi


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