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Spectrum of Disproportionate Short Stature at a Tertiary-care Center in Northern India.

Indian pediatrics - 15 Nov 2017

Singh Ankur, Pradhan Gaurav, Prasad Rajniti, Mishra Om Prakash, Kapoor Seema

Abstract excerpt

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,...

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PMID: 29217808
DOI: 10.1007/s13312-017-1195-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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