pfkxj
HBT and CM have often been considered distinct disorders, based on the clinical presentation of cutaneous lesions, but overlapping phenotypes have been described in some families.A locus for CM has recently been mapped to a 23-cM region on chromosome 5q13–q15 (CMC1). Here we report clinical and histological features of a large HBT family which showed linkage to CMC1.While this work was in progress, the locus for capillary malformation (CMC1) was assigned to a 19 Mb region on 5q13–15.The linked interval in the present family spans 7 Mb on chromosome 5q14 physical map and coincides to CMC1. Among cutaneous vascular anomalies, HBT and CM are usually classified in two distinct groups.
申东熙老伯
19Mb是长度,5q13-1是5号染色体长臂13-1位置。
Eason老歌迷
cmc1就是c-x9-c motif containg 1基因,在ncbi就可以查到详情。
19mb就是大小。
5q13-15就是它位于染色体的具体位置区间。
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