Classic Ehlers-Danlos Syndrome in a Son and Father with a Heart Transplant Performed in the Father
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We report a 13-year-old male patient with severe orthopedic problems including features of a connective tissue disorder and a heterozygous c.305T > A variant found within exon 3 of the autosomal dominant collagen ( COL5A1 ) gene causing the classic Ehlers-Danl... ...
