[A familial case of eyelip ptosis with blepharophimosis and epicanthus inversus].
作者信息
Fontaine G, François P, Razemon P, Farriaux J P, Walbaum R
出版信息
J Genet Hum. 1974 Sep;22(3):233-41.
PMID:4457601
Abstract
摘要
相似文献
1
[A familial case of eyelip ptosis with blepharophimosis and epicanthus inversus].[睑裂狭小、内眦赘皮合并眼睑下垂的家族性病例]
J Genet Hum. 1974 Sep;22(3):233-41.
2
Blepharophimosis, ptosis, epicanthus inversus, telecanthus, amblyopia, and menstrual abnormality in sisters.姐妹俩出现睑裂狭小、上睑下垂、内眦赘皮、眼距过宽、弱视和月经异常。
Jpn J Ophthalmol. 1995;39(2):172-6.
3
Blepharophimosis-ptosis-epicanthus inversus syndrome in a Pakistani pedigree.一个巴基斯坦家系中的睑裂狭小-上睑下垂-内眦赘皮综合征
J Coll Physicians Surg Pak. 2010 Apr;20(4):285-6.
4
[Blepharophimosis, ptosis and epicanthus inversus].[睑裂狭小、上睑下垂及内眦赘皮]
Pediatr Med Chir. 1983 Sep-Oct;5(5):437-41.
5
Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)].睑裂狭小、上睑下垂、内眦赘皮综合征，1例与新发平衡常染色体易位[46,XY,t(3;7)(q23;q32)]相关的新病例。
Am J Med Genet. 1994 Jul 1;51(3):258-9. doi: 10.1002/ajmg.1320510317.
6
Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome.在一个患有睑裂狭小-上睑下垂-内眦赘皮综合征的日本家族中，叉头转录因子基因FOXL2存在杂合性17碱基对缺失。
J Hum Genet. 2001;46(12):733-6. doi: 10.1007/s100380170009.
7
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23.与3q22带间质性缺失相关的睑裂狭小、上睑下垂和内眦赘皮综合征（BPES）：综述及基因定位到3q22.3带和3q23带的交界区
Am J Med Genet. 1993 Dec 1;47(8):1147-50. doi: 10.1002/ajmg.1320470802.
8
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).睑裂狭小-上睑下垂-内眦赘皮综合征（BPES）。
Acta Ophthalmol Scand. 1996 Feb;74(1):45-7. doi: 10.1111/j.1600-0420.1996.tb00680.x.
9
[Blepharophimosis, ptosis and epicanthus inversus syndrome plus sensorineural deafness].[睑裂狭小、上睑下垂和内眦赘皮综合征伴感音神经性耳聋]
An Esp Pediatr. 1999 Nov;51(5):530-2.
10
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) and microcephaly.
Am J Med Genet. 1994 Aug 15;52(2):245. doi: 10.1002/ajmg.1320520228.
引用本文的文献
1
The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types.睑裂狭小、上睑下垂及内眦赘皮综合征：两种类型的描述。
Am J Hum Genet. 1983 Sep;35(5):1020-7.
Zotero 插件