A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23.
作者信息
Amati P, Gasparini P, Zlotogora J, Zelante L, Chomel J C, Kitzis A, Kaplan J, Bonneau D
出版信息
Am J Hum Genet. 1996 May;58(5):1089-92.
Abstract
摘要
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1
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Am J Hum Genet. 1994 May;54(5):844-51.
2
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Genes Dev. 1994 Feb 15;8(4):414-27. doi: 10.1101/gad.8.4.414.
3
Blepharophimosis syndrome is linked to chromosome 3q.
Hum Mol Genet. 1995 Mar;4(3):443-8. doi: 10.1093/hmg/4.3.443.
4
A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23.
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5
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Hum Mol Genet. 1995 May;4(5):963-7. doi: 10.1093/hmg/4.5.963.
6
Familial blepharophimosis: an uncommon marker of ovarian dysgenesis.
J Pediatr Endocrinol Metab. 1995 Apr-Jun;8(2):127-33. doi: 10.1515/jpem.1995.8.2.127.
7
Blepharophimosis and its association with female infertility.
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8
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9
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