Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome.
Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome.
复制标题
多余的指屈曲折痕：阿拉吉尔综合征的另一个临床表现。
DOI：
10.1002/ajmg.10628
复制
发表时间：
2002
期刊：
影响因子：
--
通讯作者：
Krantz,IanD
中科院分区：
文献类型：
--
作者：
Kamath,BinitaM;Loomes,KathleenM;Oakey,RebeccaJ;Krantz,IanD
Fig. 1. A: Pedigree of MRX36. B: The amplified PCR products (partial exon 2 of the ARX gene) of MRX36 family members, after separation on a 3% Agarose/1Ā TBE gel at 100 V for four hr in 1Ā TBE-buffer, showing the aberrant 24bp duplication in exon 2 in affected males (II. 1, III. 1, II. 4, II. 5) and female carriers (II. 2, II. 8). C: The clinical picture of the three affected brothers (II. 1, II. 4, II. 5) showing the dystonic hand positions and the facial grimaces.
