Successful treatment of pulmonary arterial hypertension in a 2-month-old female infant with incontinentia pigmenti: A case report

• Автори: Marta Marcia (Автор), Paola Coppo (Автор), Giuseppe Alberto Annoni (Автор), Gaetana Ferraro (Автор), Gabriella Agnoletti (Автор), Giuseppe Antonio Mazza (Автор)
• Формат: Книга
• Опубліковано: Wolters Kluwer Medknow Publications, 2023-01-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: Connect to this object online.

Incontinentia pigmenti (IP) is a rare X-linked dominant neuroectodermal dysplasia affecting almost exclusively females. It is caused by loss-of-function mutations in the inhibitor of kappa light polypeptide gene enhancer in B cells, kinase gamma gene, formerly known as NF-κB essential modulator. The...