Acromesomelic dysplasia (Marotaeux type) associated with craniovertebral junction anomaly: A report of a rare case and review of literature
Acromesomelic dysplasia Maroteaux type (AMDM) is a rare autosomal recessive osteochondrodysplasia. The responsible gene, AMDM gene, in human beings, has been mapped on 9p13-q12 chromosome by homozygous mapping and pathogenic mutation was later identified in natriuretic receptor B (NPR-B) which has b...
Main Authors: | , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Thieme Medical Publishers, Inc.
2014-05-01
|
Series: | Indian Journal of Neurosurgery |
Subjects: | |
Online Access: | http://www.thieme-connect.de/DOI/DOI?10.4103/2277-9167.138919 |