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Timothy syndrome
Relevant markers:
Hydrops1st degree AV-blockAscitesHydroceleMitten deformityTalipesParents markers:AV-blockSyndactyly of fingers
Involved genes:
(gene — definition — chromosome)CACNA1C — CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT — 12p13.33 Other online databases: OMIM References: 2015 Eur J Med Genet Case report Read on PubMed Login for more details.