A carregar...

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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Faivre, L., Le Merrer, M., Megarbane, A., Gilbert, B., Mortier, G., Cusin, V., Munnich, A., Maroteaux, P., Cormier-Daire, V.
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2000
Assuntos:
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!