Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24

Introduction: Lymphoedema-distichiasis syndrome (LD) (OMIM 153400) is a rare, primary lymphoedema of pubertal onset, associated with distichiasis. Causative mutations have now been described in FOXC2, a forkhead transcription factor gene. Numerous clinical associations have been reported with this c...

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Autori principali: Brice, G, Mansour, S, Bell, R, Collin, J, Child, A, Brady, A, Sarfarazi, M, Burnand, K, Jeffery, S, Mortimer, P, Murday, V
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2002
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735188/
https://ncbi.nlm.nih.gov/pubmed/12114478
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.39.7.478
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