Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays

Cockayne syndrome is a multi‐systemic, autosomal recessive disease characterised by postnatal growth failure and progressive multi‐organ dysfunction. The main clinical features are severe dwarfism (<−2 SD), microcephaly (<−3 SD), psychomotor delay, sensorial loss (cataracts, pigmentary retinop...

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Hlavní autoři: Pasquier, L, Laugel, V, Lazaro, L, Dollfus, H, Journel, H, Edery, P, Goldenberg, A, Martin, D, Heron, D, Merrer, M Le, Rustin, P, Odent, S, Munnich, A, Sarasin, A, Cormier‐Daire, V
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2006
Témata:
Short Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2082700/
https://ncbi.nlm.nih.gov/pubmed/16428367
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/adc.2005.080473
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