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Article

Genetics of human isolated acromesomelic dysplasia.

European journal of medical genetics - 1 Apr 2016

Khan Saadullah, Basit Sulman, Khan Muzammil Ahmad, Muhammad Noor, Ahmad Wasim

Abstract excerpt

Acromesomelic dysplasia is a type of skeletal malformation affecting distal and middle segments of the extremities. It occurs in both isolated (non-syndromic) and syndromic forms. In later case, it shows association with cardiac, respiratory, neurological and genital abnormalities. Acromesomelic dysplasia segregates in autosomal recessive mode. Mutations in three genes (GDF5, NPR2, BMPR1B) have been reported to...

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Source

Identifiers

PMID: 26926249
DOI: 10.1016/j.ejmg.2016.02.011

Genes

GDF5
NPR2

Provenance

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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