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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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BMJ Group
2000
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| Θέματα: | |
| Διαθέσιμο Online: | 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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