Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1

Dyggve-Melchior-Clausen syndrome (DMC) is an autosomal recessive condition characterised by short trunk dwarfism, scoliosis, microcephaly, coarse facies, mental retardation, and characteristic radiological features. X rays show platyspondyly with double vertebral hump, epiphyseal dysplasia, irregula...

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Autori principali: Thauvin-Robinet, C, El Ghouzzi, V, Chemaitilly, W, Dagoneau, N, Boute, O, Viot, G, Megarbane, A, Sefiani, A, Munnich, A, Le Merrer, M, Cormier-Daire, V
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2002
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734996/
https://ncbi.nlm.nih.gov/pubmed/12362026
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.39.10.714
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