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Article

RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature.

BMC musculoskeletal disorders - 20 Jul 2021

Ain Noor Ul, Fatima Zunaira, Naz Sadaf, Makitie Outi

Abstract excerpt

BACKGROUND: Skeletal dysplasia is a heterogeneous group of disorders resulting from different genetic variants in humans. The current study was designed to identify the genetic causes of skeletal dysplasia and short stature in two consanguineous families from Pakistan, both comprised of multiple affected individuals. Patients in one family had proportionate short stature with reduced head circumference while...

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Identifiers

PMID: 34284742
DOI: 10.1186/s12891-021-04503-2
PMCID: PMC8293541

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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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