Fryns J P, Vinken L, Van den Berghe H
Hum Genet. 1977 May 10;36(3):271-6. doi: 10.1007/BF00446276.
Two brothers with Coffin syndrome are presented and the fifteen other cases availabe in the literature are reviewed. The molecular defect causing this clinically recognizable syndrome is unknown, and the mode of inheritance may be a sex-linked recessive, but a sex-limited autosomal dominant or autosomal dominant with variable degree of expression cannot be fully excluded at the present time.
本文报告了两例患有科芬综合征的兄弟，并对文献中其他15例可用病例进行了综述。导致这种临床上可识别综合征的分子缺陷尚不清楚，遗传模式可能是X连锁隐性遗传，但目前尚不能完全排除性别限制的常染色体显性遗传或具有不同表达程度的常染色体显性遗传。
