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  • Loeys Dietz syndrome Relevant markers:
    Tortuous aortaWide aortic rootClubfootBroad anterior fontanelle
    Parents markers:
    Dilated aortaCleft palate
      Involved genes:
      (gene — definition — chromosome)      		TGFBR1 — TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I — 9q22.33, TGFBR2 — TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II — 3p24.1
      Other online databases:OMIM
      References:
      2014 Ultraschall Med Case report Read on PubMed
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