The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data.
Pediatr Blood Cancer
; 64(11)2017 Nov.
Article
en En
| MEDLINE
| ID: mdl-28509441
ABSTRACT
This study presents the clinical phenotype and molecular analysis findings from 11 patients recorded in the Greek Shwachman-Diamond syndrome (SDS) Registry. The most severely affected patient in our registry was diagnosed at birth and is the first patient reported to require bone marrow transplantation so early in life. Severe psoriasis, a feature not previously reported in SDS, was observed in one patient. Mutations in the Shwachman-Bodian-Diamond syndrome gene (SBDS) were found in all patients. Cytogenetic analyses revealed clonal abnormalities, one novel, in two patients.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Insuficiencia Pancreática Exocrina
/
Enfermedades de la Médula Ósea
/
Proteínas
/
Sistema de Registros
/
Lipomatosis
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
País/Región como asunto:
Europa
Idioma:
En
Revista:
Pediatr Blood Cancer
Asunto de la revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Año:
2017
Tipo del documento:
Article
País de afiliación:
Grecia