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Article

Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Sept 2021

Kılıç Esra, Çavdarlı Büşranur, Büyükyılmaz Gönül, Kılıç Mustafa

Abstract excerpt

OBJECTIVES: Acromesomelic dysplasia, type Maroteaux, is an autosomal recessive skeletal dysplasia caused by biallelic loss of function variations of NPR2, which encodes a cartilage regulator C-type natriuretic peptide receptor B. NPR2 variations impair skeletal growth. It is a rare type of dwarfism characterized by shortening of the middle and distal segments of the limbs with spondylar dysplasia. METHODS: We...

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PMID: 34162036
DOI: 10.1515/jpem-2021-0055

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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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