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Ehlers-Danlos syndrome, musculocontractural type 1
Relevant markers:
Borderline ventriculomegaly (10-12 mm)Overlapping fingersSingle umbilical artery (SUA)Talipes
Involved genes:
(gene — definition — chromosome)CHST14 — CARBOHYDRATE SULFOTRANSFERASE 14 — 15q15.1 References: 2012 Am J Med Genet A Case report (2 cases) Read on PubMed Login for more details.