Incontinentia pigmenti in a male (XY) infant with long-term follow up over 8 years
Author:
Affiliation:
1. Department of Dermatology; Hirosaki University Graduate School of Medicine; Hirosaki Japan
2. Nomura Dermatology Clinic; Hirosaki Japan
3. Department of Pediatrics; Hirosaki University Graduate School of Medicine; Hirosaki Japan
Funder
KAKENHI
Publisher
Wiley
Subject
Dermatology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/1346-8138.14002/fullpdf
Reference13 articles.
1. Incontinentia pigmenti in male patients;Pacheco;J Am Acad Dermatol,2006
2. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium;Smahi;Nature,2000
3. A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti;Steffann;Prenat Diagn,2004
4. Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion;Bardaro;Hum Mutat,2003
5. Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization;Franco;J Am Acad Dermatol,2006
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2. Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male;International Journal of Molecular Sciences;2022-01-21
3. Systemic and ocular manifestations of a patient with mosaic ARID1A ‐ a ssociated Coffin‐Siris syndrome and review of select mosaic conditions with ophthalmic manifestations;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2020-09
4. Incontinentia pigmenti in boys: Causes and consequences;Annales de Dermatologie et de Vénéréologie;2020-03
5. Incontinencia pigmenti en hombres y mujeres, un estudio de 10 años;Piel;2019-06
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