Brachydactyly Type A2

Common Name(s)

Brachydactyly Type A2, Brachymesophalangy Type 2

Brachydactyly type A2 is an autosomal dominant disorder characterized by malformations of the middle phalanx of the index finger and by anomalies of the second toe (summary by {11:Su et al., 2011}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Brachydactyly Type A2" 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 A2" returned 6 free, full-text research articles on human participants. First 3 results:

Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2).
 

Author(s): Xudong Liu, Linghan Gao, Aman Zhao, Rui Zhang, Baohu Ji, Lei Wang, Yonglan Zheng, Bingfang Zeng, Robert K Valenzuela, Lin He, Jie Ma

Journal:

 

Brachydactyly type A2 (BDA2, MIM 112600) is characterized by the deviation and shortening of the middle phalange of the index finger and the second toe. Using genome-wide linkage analysis in a Chinese BDA2 family, we mapped the maximum candidate interval of BDA2 to a ∼1.5 Mb region ...

Last Updated: 8 Apr 2014

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Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.
 

Author(s): Katarina Dathe, Klaus W Kjaer, Anja Brehm, Peter Meinecke, Peter Nürnberg, Jordao C Neto, Decio Brunoni, Nils Tommerup, Claus E Ott, Eva Klopocki, Petra Seemann, Stefan Mundlos

Journal: Am. J. Hum. Genet.. 2009 Apr;84(4):483-92.

 

Autosomal-dominant brachydactyly type A2 (BDA2), a limb malformation characterized by hypoplastic middle phalanges of the second and fifth fingers, has been shown to be due to mutations in the Bone morphogenetic protein receptor 1B (BMPR1B) or in its ligand Growth and differentiation ...

Last Updated: 13 Apr 2009

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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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Reviews from the PubMed Database

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The terms "Brachydactyly Type A2" returned 0 free, full-text review articles on human participants.

 
 
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