Shojania A M, McAlpine P J, Ray M
Am J Med Genet. 1983 Mar;14(3):479-85. doi: 10.1002/ajmg.1320140312.
A couple who were first cousins had three children: an older son with Bloom syndrome (BLS) and homozygous lecithin-cholesterol acyltransferase (LCAT) deficiency; the second child (a son) and the parents are LCAT deficiency and the youngest child (a daughter), is homozygous for LCAT deficiency. The use of genetic markers gave no evidence of linkage of BLS and LCAT loci.
大儿子患有布卢姆综合征（BLS）且纯合子卵磷脂胆固醇酰基转移酶（LCAT）缺乏症；第二个孩子（儿子）和父母存在LCAT缺乏症，最小的孩子（女儿）为LCAT缺乏症纯合子。基因标记的检测未发现BLS与LCAT基因座存在连锁关系。
