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Article

Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families.

Congenital anomalies - 1 Mar 2017

Umair Muhammad, Rafique Afzal, Ullah Asmat, Ahmad Farooq, Ali Raja Hussain, Nasir Abdul, Ansar Muhammad, Ahmad Wasim

Abstract excerpt

Acromesomelic dysplasia Grebe type (AMDG) is characterized by severe knob like non-functional fingers and short acromesomelic limbs, and is inherited in an autosomal recessive manner. Disease causing sequence variants in the GDF5 (Growth Differentiation Factor 5) gene located on chromosome 20q11.22 are responsible for causing AMDG. In the study, presented here, two consanguineous families with AMDG were...

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Identifiers

PMID: 27577507
DOI: 10.1111/cga.12187

Genes

GDF5

Variants

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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