Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients

Jacob, P; Bhavani, GSL; Shah, H; Galada, C; Nampoothiri, S; Kamath, N; Phadke, SR; Muranjan, M; Datar, CA; Shukla, A; Girisha, KM

Girisha, KM (通讯作者),Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal 576104, Karnataka, India.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022; 188 (3): 751

Abstract

Pseudoachondroplasia (PSACH) is an autosomal dominant disorder characterized by rhizomelic short-limbed skeletal dysplasia. The primary clinical and r......

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