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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Faivre, L., Le Merrer, M., Megarbane, A., Gilbert, B., Mortier, G., Cusin, V., Munnich, A., Maroteaux, P., Cormier-Daire, V.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BMJ Group 2000
विषय:
ऑनलाइन पहुंच: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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