[1] |
Fusco F, Conte MI, Diociaiuti A, et al. Unusual father⁃to⁃daughter transmission of incontinentia pigmenti due to mosaicism in IP males[J]. Pediatrics, 2017,140(3):e20162950. doi: 10.1542/peds.2016⁃2950.
|
[2] |
Thakur S, Puri RD, Kohli S, et al. Utility of molecular studies in incontinentia pigmenti patients[J]. Indian J Med Res, 2011,133(4):442⁃445.
|
[3] |
Araki Y, Abe Y, Takeda Y, et al. Incontinentia pigmenti with retinal vascular anomaly and deletion of exons 4⁃10 in NEMO[J]. J Dermatol, 2017,44(8):976⁃977. doi: 10.1111/1346⁃8138. 13609.
|
[4] |
Boisson B, Honda Y, Ajiro M, et al. Rescue of recurrent deep intronic mutation underlying cell type⁃dependent quantitative NEMO deficiency[J]. J Clin Invest, 2019,129(2):583⁃597. doi: 10.1172/JCI124011.
|
[5] |
Maubach G, Schmädicke AC, Naumann M. NEMO Links nuclear factor⁃κB to human diseases[J]. Trends Mol Med, 2017,23(12):1138⁃1155. doi: 10.1016/j.molmed.2017.10.004.
|
[6] |
Alabdullatif Z, Coulombe J, Steffann J, et al. Postzygotic mosaicism and incontinentia pigmenti in male patients: molecular diagnosis yield[J]. Br J Dermatol, 2018,178(4):e261⁃261e262. doi: 10.1111/bjd.16092.
|
[7] |
Chambelland A, Aubert H, Bourrat E, et al. Incontinentia pigmenti in boys: causes and consequences[J]. Ann Dermatol Venereol, 2020,147(3):188⁃193. doi: 10.1016/j.annder.2019.07. 007.
|
[8] |
Bodemer C, Diociaiuti A, Hadj⁃Rabia S, et al. Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti[J]. J Eur Acad Dermatol Venereol, 2020,34(7):1415⁃1424. doi: 10.1111/jdv.16403.
|
[9] |
Richards CS, Bale S, Bellissimo DB, et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007 [J]. Genet Med, 2008, 10(4): 294⁃300. doi:10.1097/GIM.0b013e31816b5cae.
|
[10] |
Kanai S, Okanishi T, Kawai M, et al. Late⁃onset cerebral arteriopathy in a patient with incontinentia pigmenti[J]. Brain Dev, 2021,43(4):580⁃584. doi: 10.1016/j.braindev.2020.12.015.
|