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abstractpubmed· Abstract 2017· item PMID:29217808
Spectrum of Disproportionate Short Stature at a Tertiary-care Center in Northern India. Forty cases with disproportionate short stature (median age 3.1 y; 24 males) from genetic clinic of Lok Nayak Hospital, Delhi were assessed in this study. Achondroplasia was the commonest (n=9) skeletal dysplasia; conclusive diagnosis was not possible in six children. Molecular confirmation of clinicoradiological phenotype was done in 18 of 40 cases. Genetic study of all achondroplasia cases revealed c. 1138 G>A, p. Gly380Arg mutation in hot spot.