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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Bibliographische Detailangaben
Hauptverfasser: Faivre, L., Le Merrer, M., Megarbane, A., Gilbert, B., Mortier, G., Cusin, V., Munnich, A., Maroteaux, P., Cormier-Daire, V.
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Group 2000
Schlagworte:
Short Report
Online Zugang: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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