Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene-Reference-Cited by-同舟云学术

Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene

Published:2021-03-10 Issue:5 Volume:30 Page:676-683
ISSN:0906-6705
Container-title:Experimental Dermatology
language:en
Short-container-title:Exp Dermatol

Author:

Kim Hwa Young¹,Song Hyun Beom²,Kim Kyu Han³,Kim Jeong Hun²,Chae Jong‐Hee¹⁴,Kim Man Jin⁴⁵,Seong Moon‐Woo⁵,Ko Jung Min¹⁴^ORCID

Affiliation:

1. Department of Pediatrics Seoul National University HospitalSeoul National University College of Medicine Seoul Korea

2. Department of Ophthalmology Seoul National University HospitalSeoul National University College of Medicine Seoul Korea

3. Department of Dermatology Seoul National University HospitalSeoul National University College of Medicine Seoul Korea

4. Rare Disease Center Seoul National University HospitalSeoul National University College of Medicine Seoul Korea

5. Department of Laboratory Medicine Seoul National University HospitalSeoul National University College of Medicine Seoul Korea

Publisher

Wiley

Subject

Dermatology,Molecular Biology,Biochemistry

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/exd.14313

Reference43 articles.

1. Incontinentia pigmenti.GeneReviews. 2017.https://www.ncbi.nlm.nih.gov/books/NBK1472/. Accessed October 3 2020.

2. Incontinentia pigmenti (Bloch-Sulzberger syndrome).

3. Incontinentia pigmenti diagnostic criteria update

4. Incontinentia pigmenti: A review and update on the molecular basis of pathophysiology

5. Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti

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1. An efficient molecular genetic testing strategy for incontinentia pigmenti based on single-tube long fragment read sequencing;npj Genomic Medicine;2024-05-29

2. Nucleotide metabolism, leukodystrophies, and CNS pathology;Journal of Inherited Metabolic Disease;2024-02-29

3. Novel IKBKG gene mutations in incontinentia pigmenti: report of two cases;Frontiers in Medicine;2023-12-19

4. Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology;Frontiers in Pediatrics;2022-09-06