Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type

Acromesomelic dysplasia Maroteaux type (AMDM) is an autosomal recessive disorder belonging to the group of acromesomelic dysplasias. AMDM is characterised by severe dwarfism with shortening of the middle and distal segments of the limbs. An AMDM gene has recently been mapped to human chromosome 9p13...

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Bibliografiske detaljer
Main Authors: Faivre, L., Le Merrer, M., Megarbane, A., Gilbert, B., Mortier, G., Cusin, V., Munnich, A., Maroteaux, P., Cormier-Daire, V.
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Group 2000
Fag:
Short Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734441/
https://ncbi.nlm.nih.gov/pubmed/10633136
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.1.52
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