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Article

Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.

American journal of medical genetics. Part A - 1 Mar 2022

Jacob Prince, Bhavani Gandham Sri Lakshmi, Shah Hitesh, Galada Chelna, Nampoothiri Sheela, Kamath Nutan, Phadke Shubha R, Muranjan Mamta, Datar Chaitanya A, Shukla Anju, Girisha Katta M

Abstract excerpt

Pseudoachondroplasia (PSACH) is an autosomal dominant disorder characterized by rhizomelic short-limbed skeletal dysplasia. The primary clinical and radiographic features include disproportionate dwarfism, joint laxity and hyperextensibility, exaggerated lumbar lordosis, and late ossification of the epiphyses. Identification of disease-causing variants in heterozygous state in COMP establishes the molecular...

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PMID: 34750995
DOI: 10.1002/ajmg.a.62566

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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