Supervisor：Ministry of Education of the People's Republic of ChinaSponsor：Sichuan University Editor-in-chief：LUO Fengming Publishing period：
Monthly
ISSN：1002-0179CN：51-1356/R
Citation：任湘, 張明, 陸方. 斜視首診的色素失禁癥患兒眼部病變一例. West China Medical Journal, 2017, 32(7): 1128-1130. doi: 10.7507/1002-0179.201612026Copy
Copyright ? the editorial department of West China Medical Journal of West China Medical Publisher. All rights reserved
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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