Uncovering incontinentia pigmenti: from DNA sequence to pathophysiology
KN How, HJY Leong, ZAD Pramono, KF Leong… - Frontiers in …, 2022 - frontiersin.org
Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis. The disease is known
to be caused by recurrent deletion of exons 4–10 of the Inhibitor Of Nuclear Factor Kappa B …
to be caused by recurrent deletion of exons 4–10 of the Inhibitor Of Nuclear Factor Kappa B …
Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia …
J Eigemann, A Janda, C Schuetz… - Journal of Clinical …, 2025 - Springer
Purpose Genetic hypomorphic defects in X chromosomal IKBKG coding for the NF-κB
essential modulator (NEMO) lead to ectodermal dysplasia and immunodeficiency in males …
essential modulator (NEMO) lead to ectodermal dysplasia and immunodeficiency in males …
NEMO-NDAS: a panniculitis in the young representing an autoinflammatory disorder in disguise
S Hegazy, MC Marques, SW Canna… - The American Journal …, 2022 - journals.lww.com
Abstract A 15-month-old full-term boy of African descent with an asymptomatic sickle cell trait
presented with episodes of transient erythematous subcutaneous nodules involving the …
presented with episodes of transient erythematous subcutaneous nodules involving the …
色素失禁症遗传学及临床诊治研究进展
徐菲， 石晶 - 发育医学电子杂志, 2023 - fyyxzz.com
色素失禁症遗传学及临床诊治研究进展 Page 1 《发育医学电子杂志》2023 年9 月第11 卷第5 期J
Dev Med (Electronic Version), Sep. 2023, Vol.11, No.5 ·395· 色素失禁症遗传学及临床诊治研究 …
Dev Med (Electronic Version), Sep. 2023, Vol.11, No.5 ·395· 色素失禁症遗传学及临床诊治研究 …