1.
Eur J Med Genet
; 66(8): 104798, 2023 Aug.
Artículo
en Inglés
| MEDLINE
| ID: mdl-37307869
RESUMEN
PTEN hamartoma tumor syndromes (PHTS) comprise hamartomatous overgrowth syndromes associated with PTEN germline mutations. In this case report, we describe a variant identified by next generation sequencing causing peculiar dermatological and skeletal features not yet described in the literature. Being cognizant of such unique disease presentations in PHTS, that manifest at a very young age, could help facilitate a timely diagnosis by clinicians and thus the early education of families on active cancer surveillance. This specific case also strengthens the concept of variable presentation of PHTS and the need for genetic testing early on, even if not all criteria for PHTS are met for a formal clinical diagnosis.
Asunto(s)
Síndrome de Hamartoma Múltiple , Humanos , Síndrome de Hamartoma Múltiple/diagnóstico , Síndrome de Hamartoma Múltiple/genética , Síndrome de Hamartoma Múltiple/patología , Fosfohidrolasa PTEN/genética , Pruebas Genéticas , Mutación de Línea Germinal
2.
Soins
; (718): 43-6, 2007 Sep.
Artículo
en Francés
| MEDLINE
| ID: mdl-17970574