1.
J Clin Immunol
; 42(5): 955-958, 2022 07.
Artículo
en Inglés
| MEDLINE
| ID: mdl-35438416
Asunto(s)
Síndrome Linfoproliferativo Autoinmune , Enfermedades Autoinflamatorias Hereditarias , Síndrome Linfoproliferativo Autoinmune/genética , Enfermedades Autoinflamatorias Hereditarias/diagnóstico , Enfermedades Autoinflamatorias Hereditarias/genética , Humanos , Mutación/genética , Fenotipo , Síndrome
2.
Acta Paediatr
; 109(12): 2692-2693, 2020 12.
Artículo
en Inglés
| MEDLINE
| ID: mdl-32506521
Asunto(s)
Hipersensibilidad , Neoplasias Cutáneas , Vacunas , Aluminio/efectos adversos , Niño , Humanos
3.
Am J Med Genet A
; 139(1): 37-9, 2005 Nov 15.
Artículo
en Inglés
| MEDLINE
| ID: mdl-16222662
RESUMEN
Mutation at the ATR-X locus is associated with severe mental retardation. Several conditions, initially reported as clinically distinct phenotypes, have now been attributed to ATR-X mutation. Asplenia, in association with severe mental retardation, has been reported and subsequently demonstrated in one family to be due to ATR-X mutation. We now report on a second instance of a patient presenting with mental retardation and asplenia who has been shown to have a mutation at the ATR-X locus.