Related references
Note: Only part of the references are listed.Developmental and Genetic Perspectives on Pierre Robin Sequence
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TRENDS IN MOLECULAR MEDICINE (2011)
c. 595-596 insC of FOXC2 Underlies Lymphedema, Distichiasis, Ptosis, Ankyloglossia, and Robin Sequence in a Thai Patient
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
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Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
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Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2
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Long-range upstream and downstream enhancers control distinct subsets of the complex spatiotemporal Sox9 expression pattern
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Position effects due to chromosome breakpoints that map ∼900 Kb upstream and ∼1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia
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Fine mapping of chromosome 17 translocation breakpoints ≥900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia
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Long-range activation of Sox9 in Odd Sex (Ods) mice
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Sox9 is required for determination of the chondrogenic cell lineage in the cranial neural crest
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FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate
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Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24
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Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations
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Truncating mutations in FOXC2 cause multiple lymphedema syndromes
DN Finegold et al.
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Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome
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