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TAR syndrome
Relevant markers:
Absent humerusAbsent radiusBorderline ventriculomegaly (10-12 mm)ClubfootClubhandHypoplastic humerus/humeriHypospadias/tulip signMicrognathia/retrognathiaNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaOmphaloceleSingle umbilical artery (SUA)Ulnar deviationHypoplasia/partial agenesis of vermisParents markers:Lower legPyelectasis/hydronephrosis
Involved genes:
(gene — definition — chromosome)RBM8A — RNA-BINDING MOTIF PROTEIN 8 — 1q21.1 Other online databases: OMIM References: 1999 Prenat. Diagn Case report Read on PubMed 2000 Ultrasound Obstet Gynecol Case report Read on PubMed 2005 Prenatal Diagnosis Case report Read on PubMed 2013 BMC Res Notes Case report and review Read on PubMed 2014 Mol Med Rep Case report Read on PubMed Login for more details.