Brachydactyly Type C

Common Name(s)

Brachydactyly Type C

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Brachydactyly Type C" 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 "Brachydactyly Type C" returned 4 free, full-text research articles on human participants. First 3 results:

Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.
 

Author(s): Soo Hyun Seo, Mi Jung Park, Shin-Hye Kim, Ok-Hwa Kim, Seungman Park, Sung Im Cho, Sung Sup Park, Moon-Woo Seong

Journal: Ann Lab Med. 2013 Mar;33(2):150-2.

 

Brachydactyly type C (BDC) is characterized by shortening of the middle phalanges of the index, middle, and little fingers. Hyperphalangy of the index and middle finger and shortening of the first metacarpal can also be observed. BDC is a rare genetic condition associated with the ...

Last Updated: 13 Mar 2013

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A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.
 

Author(s): Katarina Lehmann, Petra Seemann, Jan Boergermann, Gilles Morin, Silke Reif, Petra Knaus, Stefan Mundlos

Journal: Eur. J. Hum. Genet.. 2006 Dec;14(12):1248-54.

 

Heterozygous missense mutations in the serine-threonine kinase receptor BMPR1B result typically in brachydactyly type A2 (BDA2), whereas mutations in the corresponding ligand GDF5 cause brachydactyly type C (BDC). Mutations in the GDF inhibitor Noggin (NOG) or activating mutations ...

Last Updated: 23 Nov 2006

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Brachydactyly type C associated with shortening of the hallux.
 

Author(s): J M Rowe-Jones, A L Moss, M A Patton

Journal: J. Med. Genet.. 1992 May;29(5):346-8.

 

A four generation autosomal dominant pedigree of brachydactyly type C is presented with its radiological features. The hands and feet were similarly affected. All the subjects showing these changes had shortening of the big toes and, in addition, had cupped ears.

Last Updated: 12 Jun 1992

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Brachydactyly Type C" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.