Results 121 to 130 of about 3,858 (212)

CHORIORETINAL ANASTOMOSIS AND RETINAL DETACHMENT WITH LASER PHOTOCOAGULATION-TREATED INCONTINENTIA PIGMENTI. [PDF]

Retin Cases Brief Rep
Burt SS, Campbell JP, Young BK.
europepmc   +1 more source

Deux cas d'incontinentia pigmenti de révélation tardive

, 2003
Deux observations d'incontinentia pigmenti d'expression inhabituelles sont rapportées. - Un garçon de 12 mois avait depuis l'âge de 2 mois des lésions pigmentées blaschkoïdes linéaires d'extension inflammatoire progressive à chaque poussée fébrile, sans ...
MAITRE, Séverine, Université Jean Monnet, Faculté de médecine Jacques Lisfranc, Saint-Étienne, CAMBAZARD, Frédéric   +2 more
core  

Clinical and genetic spectrum of inborn errors of immunity: a retrospective study on outcomes at a single center. [PDF]

Front Immunol
Kose H, Akalin A.
europepmc   +1 more source

Incontinentia Pigmenti: A Rare Case of Survival of a Male Infant. [PDF]

Cureus
Shin R, Chen H, Tarbox M.
europepmc   +1 more source

Patient Perspectives, Unmet Needs and Dilemmas in Reproductive Decision-making for Genodermatoses: A Qualitative Interview Study. [PDF]

Acta Derm Venereol
Van Veen FCAP, Borghouts OJM, Clabbers JMK, Steijlen PM, Veldman K, Tammer F, Van Geel M, Mosterd K, Van Osch L, Heijligers M, Gostyński AH.   +10 more
europepmc   +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

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

Incontinentia Pigmenti with Pseudoglioma [PDF]

Proceedings of the Royal Society of Medicine, 1969
openaire   +2 more sources

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 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