斜视首诊的色素失禁症患儿眼部病变一例_West China Medical Journal

Authors：

任湘 , 张明 ,  陆方

Corresponding author：

陆方, Email: lufang@medmail.com.cn

Keywords：

色素失禁症; 视网膜血管病; 斜视

DOI：

10.7507/1002-0179.201612026

Video：

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Citation： 任湘, 张明, 陆方. 斜视首诊的色素失禁症患儿眼部病变一例. West China Medical Journal, 2017, 32(7): 1128-1130. doi: 10.7507/1002-0179.201612026 Copy

1.	Sefiani A, Abel L, Heuertz S, et al. The gene for incontinentia pigmenti is assigned to Xq28. Genomics, 1989, 4(3): 427-429.
2.	Makris C, Roberts JL, Karin M. The carboxyl-terminal region of IkappaB kinase gamma (IKKgamma) is required for full IKK activation. Mol Cell Biol, 2002, 22(18): 6573-6581.
3.	Aradhya S, Woffendin H, Jakins T, et al. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum Mol Genet, 2001, 10(19): 2171-2179.
4.	Happle R. X-chromosome inactivation: role in skin disease expression. Acta Paediatr Suppl, 2006, 95(451): 16-23.
5.	Smahi A, Courtois G, Vabres P, et al. Genomic rearrangement in NEMO impairs NF-KappaB activation and is a cause of incontinentia pigmenti. Nature, 2000, 405(6785): 466-472.
6.	Winterberg DH, van Tijn DA, Smitt JH, et al. Two neonates with vesicular skin lesions due to incontinentia pigmenti. Ned Tijdschr Geneeskd, 2001, 145(45): 2178-2182.
7.	Martinez-Pomar N, Munoz-Saa I, Heine-Suner D, et al. A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. Hum Genet, 2005, 118(3/4): 458-465.
8.	Goldberg MF, Custis PH. Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome). Ophthalmology, 1993, 100(11): 1645-1654.
9.	Swinney CC, Han DP, Karth PA. Incontinentia pigmenti: a comprehensive review and update. Ophthalmic Surg Lasers Imaging Retina, 2015, 46(6): 650-657.

1. Sefiani A, Abel L, Heuertz S, et al. The gene for incontinentia pigmenti is assigned to Xq28. Genomics, 1989, 4(3): 427-429.
2. Makris C, Roberts JL, Karin M. The carboxyl-terminal region of IkappaB kinase gamma (IKKgamma) is required for full IKK activation. Mol Cell Biol, 2002, 22(18): 6573-6581.
3. Aradhya S, Woffendin H, Jakins T, et al. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum Mol Genet, 2001, 10(19): 2171-2179.
4. Happle R. X-chromosome inactivation: role in skin disease expression. Acta Paediatr Suppl, 2006, 95(451): 16-23.
5. Smahi A, Courtois G, Vabres P, et al. Genomic rearrangement in NEMO impairs NF-KappaB activation and is a cause of incontinentia pigmenti. Nature, 2000, 405(6785): 466-472.
6. Winterberg DH, van Tijn DA, Smitt JH, et al. Two neonates with vesicular skin lesions due to incontinentia pigmenti. Ned Tijdschr Geneeskd, 2001, 145(45): 2178-2182.
7. Martinez-Pomar N, Munoz-Saa I, Heine-Suner D, et al. A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. Hum Genet, 2005, 118(3/4): 458-465.
8. Goldberg MF, Custis PH. Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome). Ophthalmology, 1993, 100(11): 1645-1654.
9. Swinney CC, Han DP, Karth PA. Incontinentia pigmenti: a comprehensive review and update. Ophthalmic Surg Lasers Imaging Retina, 2015, 46(6): 650-657.

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West China Medical Journal

斜视首诊的色素失禁症患儿眼部病变一例

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