Metaphyseal dysplasia maxillary hypoplasia brachydactyly

Common Name(s)

Metaphyseal dysplasia maxillary hypoplasia brachydactyly

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Metaphyseal dysplasia maxillary hypoplasia brachydactyly" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Metaphyseal dysplasia maxillary hypoplasia brachydactyly" returned 1 free, full-text research articles on human participants. First 3 results:

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.
 

Author(s): Pierre Moffatt, Mouna Ben Amor, Francis H Glorieux, Paul Roschger, Klaus Klaushofer, Jeremy A Schwartzentruber, Andrew D Paterson, Pingzhao Hu, Christian Marshall, , Somayyeh Fahiminiya, Jacek Majewski, Chandree L Beaulieu, Kym M Boycott, Frank Rauch

Journal: Am. J. Hum. Genet.. 2013 Feb;92(2):252-8.

 

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB) is an autosomal-dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth. ...

Last Updated: 11 Feb 2013

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Reviews from the PubMed Database

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The terms "Metaphyseal dysplasia maxillary hypoplasia brachydactyly" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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