A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review.
Indian J Hum Genet
;
2011 May; 17(2): 97-99
Artículo
en Inglés
| IMSEAR
| ID: sea-138944
ABSTRACT
Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder. It is a spondyloepimetaphyseal dysplasia associated with mental retardation. Clinical manifestations include coarse facies, microcephaly, short trunk dwarfism, and mental retardation. Mutations in Dymeclin gene (DYM), mapped to chromosome 18q21.1, is responsible for DMC. We report here the observation of a consanguineous Moroccan patient having DMC syndrome. The molecular studies showed a previously reported homozygous mutation at c.1878delA of DYM gene. We discuss this recurrent mutation in Moroccan patients with DMC syndrome with a review.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Osteocondrodisplasias
/
Padres
/
Humanos
/
Masculino
/
Niño
/
Consanguinidad
/
Enfermedades Genéticas Ligadas al Cromosoma X
/
Enanismo
/
Discapacidad Intelectual
/
Marruecos
País/Región como asunto:
Africa
Idioma:
Inglés
Revista:
Indian J Hum Genet
Año:
2011
Tipo del documento:
Artículo
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