TY  - GEN
AU  - Higuchi,Yousuke
AU  - Hasegawa,Kosei
AU  - Yamashita,Miho
AU  - Tanaka,Hiroyuki
AU  - Tsukahara,Hirokazu
TI  - A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature
SN  - 1752-1947
PY  - 2018///0508
KW  - Arthritis
KW  - complications
KW  - Cataract
KW  - diagnosis
KW  - Child
KW  - Child, Preschool
KW  - Cleft Palate
KW  - etiology
KW  - Collagen Type II
KW  - genetics
KW  - Collagen Type XI
KW  - deficiency
KW  - Connective Tissue Diseases
KW  - Craniofacial Abnormalities
KW  - Diagnosis, Differential
KW  - Growth Disorders
KW  - Hearing Loss, Sensorineural
KW  - Humans
KW  - Male
KW  - Micrognathism
KW  - Mutation
KW  - Osteochondrodysplasias
KW  - Palate, Soft
KW  - abnormalities
KW  - Phenotype
KW  - Retinal Detachment
N1  - Publication Type: Case Reports; Journal Article; Review
UR  - https://doi.org/10.1186/s13256-017-1396-y
ER  -