Author:
Singh Ankur,Pradhan Gaurav,Prasad Rajniti,Mishra Om Prakash,Kapoor Seema
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Reference9 articles.
1. Kaur A, Phadke SR. Analysis of short stature cases referred for genetic evaluation. Indian J Pediatr. 2012;79:1597–600.
2. Nampoothiri S, Yesodharan D, Sainulabdin G, Narayanan D, Padmanabhan L, Girisha KM, et al. Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in southern India: a model for the diagnosis and treatment of rare diseases in a developing country. Am J Med Genet A. 2014;164:2317–23.
3. Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell. 1994;78:335–42.
4. Hasegawa K, Tanaka H. Children with short-limbed short stature in pediatric endocrinological services in Japan. Pediatr Int. 2014 Sep 22.
5. Li F, Ma HW, Song Y, Hu M, Ren S, Yu YF, et al. Clinical analysis and genetic diagnosis of short-limb inherited short stature diseases in children. Zhongguo Dang Dai Er Ke Za Zhi. 2013;15:932–6.