Pope F M, Nicholls A C, Jones P M, Wells R S, Lawrence D
J R Soc Med. 1980 Mar;73(3):180-6.
Evidence is presented that type IV of the Ehlers-Danlos syndrome (EDS IV) is genetically variable. A benign autosomal dominant form and two autosomal recessive variants are described with clinical and biochemical features that are distinct from classical acrogeria.
有证据表明,埃勒斯-当洛综合征(EDS IV型)在遗传上具有变异性。本文描述了一种良性常染色体显性形式和两种常染色体隐性变体,其临床和生化特征与经典肢端早老症不同。