Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.
about
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.O-GlcNAc modification of the runt-related transcription factor 2 (Runx2) links osteogenesis and nutrient metabolism in bone marrow mesenchymal stem cells.Surgical Management and Evaluation of the Craniofacial Growth and Morphology in Cleidocranial Dysplasia.Patients with isolated oligo/hypodontia caused by RUNX2 duplication.
P2860
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.
description
2013 nî lūn-bûn
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2013年の論文
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name
Metaphyseal dysplasia with max ...... sed by a duplication in RUNX2.
@ast
Metaphyseal dysplasia with max ...... sed by a duplication in RUNX2.
@en
type
label
Metaphyseal dysplasia with max ...... sed by a duplication in RUNX2.
@ast
Metaphyseal dysplasia with max ...... sed by a duplication in RUNX2.
@en
prefLabel
Metaphyseal dysplasia with max ...... sed by a duplication in RUNX2.
@ast
Metaphyseal dysplasia with max ...... sed by a duplication in RUNX2.
@en
P2093
P2860
P50
P1476
Metaphyseal dysplasia with max ...... sed by a duplication in RUNX2.
@en
P2093
Chandree L Beaulieu
Christian Marshall
FORGE Canada Consortium
Francis H Glorieux
Jacek Majewski
Klaus Klaushofer
Mouna Ben Amor
Paul Roschger
Pierre Moffatt
Somayyeh Fahiminiya
P2860
P304
P356
10.1016/J.AJHG.2012.12.001
P407
P577
2013-01-03T00:00:00Z