Results 121 to 130 of about 10,846 (194)

Hyperpigmented stage of incontinentia pigmenti

Indian Dermatology Online Journal, 2021
Rhea Ahuja, Akash P Mustari, Neetu Bhari
doaj   +1 more source

Genodermatosis among the southwestern Saudi population: The pattern and the need for a premarital genetic screening protocol. [PDF]

Saudi Med J
Alfahaad HA.
europepmc   +1 more source

Recrudescence of incontinentia pigmenti presenting as a paraneoplastic syndrome: A natural experiment of NF-kB blockade in an inflammatory malignancy. [PDF]

JAAD Case Rep, 2023
Brooks BE, Robinson-Bostom L, Massoud C.
europepmc   +1 more source

Linear erythematous papulovesicular rash in a newborn. [PDF]

JAAD Case Rep
Hong J, Chu S, Cowden M, Rohr BR, Sharma TR.   +4 more
europepmc   +1 more source

Novel IKBKG gene mutations in incontinentia pigmenti: report of two cases. [PDF]

Front Med (Lausanne), 2023
Chen H, Ji X, Lai Y, Xie L, Wan C, Li L.
europepmc   +1 more source

Incontinencia pigmenti. Presentación de caso.

Acta Médica del Centro
Introducción: La incontinencia pigmenti es una enfermedad genética neurocutánea de baja frecuencia con expresividad variable y un patrón de herencia dominante ligada al cromosoma X, presentándose casi exclusivamente en féminas, considerándose un gen ...
Elayne Esther Santana Hernández
doaj  

A Case of Neonatal Hypomelanosis of Ito With Early-Onset Refractory Seizures and Cortical Malformations. [PDF]

Cureus
Alassouli YM, Tahir S, Vrushabhendra S, Kashyape P, Thyagarajan M, O E Babiker M.   +5 more
europepmc   +1 more source

Retinopathy in incontinentia pigmenti

Indian Journal of Ophthalmology, 2019
Pukhraj Rishi, Niharika Singh, Ekta Rishi   +2 more
doaj   +1 more source

Long-read sequencing is required for precision diagnosis of incontinentia pigmenti. [PDF]

HGG Adv
Wojcik MH, Clark RD, Elias AF, Genetti CA, Madden JA, Simpson D, Golkar L, Zalusky MPG, Miller AL, Rodriguez A, Goffena J, Dash CA, Damaraju N, Gibson SB, Storz SHR, Anderson ZB, Gustafson JA, Thiffault I, Farrow EG, Pastinen T, Lin J, Huang JT, Beggs AH, Agrawal PB, Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium, Miller DT, Miller DE.   +26 more
europepmc   +1 more source

A case of familial incontinentia pigmenti in infancy without hyperpigmented stage. [PDF]

Pediatr Investig, 2023
Wang Y, Wang X, Chen T, Pan C, Li M.
europepmc   +1 more source