Autosomal dominant transmission of the Pallister-Hall syndrome.
Autosomal dominant transmission of the Pallister-Hall syndrome.
复制标题
帕利斯特-霍尔综合征的常染色体显性遗传。
DOI：
10.1016/s0022-3476(05)80392-0
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发表时间：
1993
期刊：
影响因子：
--
通讯作者：
Biesecker,LG
中科院分区：
文献类型：
--
作者：
Topf,KF;Kletter,GB;Kelch,RP;Brunberg,JA;Biesecker,LG
我们描述了一个9岁的男孩和他的34岁的父亲与Pallister-Hall综合征。先证者有性早熟、无肛、轴后多指、尿道下裂、下丘脑肿块和脑垂体移位。父亲患有多指畸形，下丘脑肿块，脑垂体扁平。我们的结论是，最可能的原因Pallister-Hall综合征是一个基因突变的常染色体显性遗传方式。
We describe a 9-year-old boy and his 34-year-old father with the Pallister-Hall syndrome. The proband had precocious puberty, imperforate anus, postaxial polydactyly, hypospadias, a hypothalamic mass, and a displaced pituitary gland. The father had polydactyly, a hypothalamic mass, and a flattened pituitary gland. We conclude that the most likely cause of the Pallister-Hall syndrome is a mutation in a gene inherited in an autosomal dominant manner.