A new acro-osteolysis syndrome caused by duplications including PTHLH.
J Hum Genet
; 59(9): 484-7, 2014 Sep.
Article
em En
| MEDLINE
| ID: mdl-25007883
ABSTRACT
Parathyroid hormone-like hormone (PTHLH, MIM 168470) is a humoral factor, structurally and functionally related to parathyroid hormone, which mediates multiple effects on chondrocyte, osteoblast and osteoclast function. Mutations and copy number imbalances of the PTHLH locus and in the gene encoding its receptor, PTHR1, result in a variety of skeletal dysplasias including brachydactyly type E, Eiken syndrome, Jansen metaphyseal chondrodysplasia and Blomstrand type chondrodysplasia. Here we describe three individuals with duplications of the PTHLH locus, including two who are mosaic for these imbalances, leading to a hitherto unrecognized syndrome characterized by acro-osteolysis, cortical irregularity of long bones and metadiaphyseal enchondromata.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Duplicação Gênica
/
Acro-Osteólise
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Proteína Relacionada ao Hormônio Paratireóideo
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Variações do Número de Cópias de DNA
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Mutação
Limite:
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article