Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings.
Clin Dysmorphol
; 26(1): 13-17, 2017 Jan.
Article
em En
| MEDLINE
| ID: mdl-27576021
ABSTRACT
We report on two siblings of Iraqi descent with clinical and radiographic features of metaphyseal dysplasia, Spahr type (MDST), born to consanguineous unaffected parents. Molecular testing confirmed pathogenic mutations in MMP13. We review the considerable overlap between MDST and other related disorders. These cases confirm the phenotypic variability and regressive nature of MDST in addition to suggesting bone fragility as a feature.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteocondrodisplasias
/
Mutação de Sentido Incorreto
/
Irmãos
/
Metaloproteinase 13 da Matriz
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Clin Dysmorphol
Assunto da revista:
TERATOLOGIA
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Reino Unido