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.
|