Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

Thirty-two unrelated patients with features of Saethre-Chotzen syndrome, a common autosomal dominant condition of craniosynostosis and limb anomalies, were screened for mutations in TWIST, FGFR2, and FGFR3. Nine novel and three recurrent TWIST mutations were found in 12 families. Seven families were...

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Библиографические подробности
Главные авторы: Paznekas, W A, Cunningham, M L, Howard, T D, Korf, B R, Lipson, M H, Grix, A W, Feingold, M, Goldberg, R, Borochowitz, Z, Aleck, K, Mulliken, J, Yin, M, Jabs, E W
Формат: Artigo
Язык:Inglês
Опубликовано: 1998
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377134/
https://ncbi.nlm.nih.gov/pubmed/9585583
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