Happle R, Lenz W
Br J Dermatol. 1977 Feb;96(2):133-5. doi: 10.1111/j.1365-2133.1977.tb12534.x.
Striation of the metaphyseal regions of the long bones, a characteristic feature of the focal dermal hypoplasia syndrome, may be explained by functional X chromosome mosaicism. The following arguments are in favour of this hypothesis: (I) The striation of bones coincides with the zones of osteogenesis. (2) The skin lesions are distributed in a linear pattern as well. (3) The syndrome is probably inherited as an X-linked dominant trait. Thus, the linear pattern of both skin and bone lesions could be due to random X inactivation.
长骨干骺端区域的条纹，作为局灶性真皮发育不全综合征的一个特征性表现，可能可用功能性X染色体嵌合现象来解释。以下论据支持这一假说：（1）骨骼的条纹与成骨区域相符。（2）皮肤损害也呈线状分布。（3）该综合征可能作为X连锁显性性状遗传。因此，皮肤和骨骼损害的线状分布可能是由于随机的X染色体失活所致。
