A Novel Heterozygous c.1024A>G Variant in BMPR1B Causes Either Isolated Brachydactyly Type A4 With Variable Expressivity or Incomplete Type A4 Overlapping Type D in a Chinese Han Pedigree.

Abstract excerpt

BDA4 and BDD are rare autosomal dominant conditions characterized by distinct hand/foot malformations, including middle phalangeal shortening in the second and fifth digits and short, broad thumb terminal phalanges. While variations in BMPR1B have been implicated in the pathogenesis of BDA1 and BDA2, the genetic basis underlying BDA4 and BDD remains unclear. Clinical and radiographic phenotyping were performed to...

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