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A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan).

Genes & genomics - 1 Aug 2020

Mustafa Saima, Akhtar Zafrin, Latif Muhammad, Hassan Mubashir, Faisal Muhammad, Iqbal Furhan

Abstract excerpt

BACKGROUND: Acromesomelic dysplasia, type Maroteaux (AMDM) is a rare skeletal dysplasia following autosomal recessive mode of inheritance and characterized by abnormal growth plates, short and abnormal bones in the extremities and spine. OBJECTIVE: Present study was designed to report the molecular basis of AMDM in enrolled consanguineous family from Pakistan. METHODS: A consanguineous family from Vehari District...

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Identifiers

PMID: 32506268
DOI: 10.1007/s13258-020-00955-3
PMCID: PMC7374443

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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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