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Article

Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.

Journal of human genetics - 1 Jun 2021

Simsek-Kiper Pelin Ozlem, Urel-Demir Gizem, Taskiran Ekim Z, Arslan Umut Ece, Nur Banu, Mihci Ercan, Haliloglu Mithat, Alanay Yasemin, Utine Gulen Eda, Boduroglu Koray

Abstract excerpt

Acromesomelic dysplasia type Maroteaux (AMDM, OMIM #602875) is an autosomal recessive disorder characterized by severe short stature, shortened middle and distal segments of the limbs, redundant skin of fingers, radial head subluxation or dislocation, large great toes and cranium, and normal intelligence. Only the skeletal system appears to be consistently affected. AMDM is caused by biallelic loss-of-function...

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PMID: 33288834
DOI: 10.1038/s10038-020-00871-0

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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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