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  Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia

Douzgou, S., Lehmann, K., Mingarelli, R., Mundlos, S., & Dallapiccola, B. (2008). Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia. American Journal of Medical Genetics Part A, 146A(16), 2116-2121. doi:10.1002/ajmg.a.32435.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7F83-E Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7F84-C
Genre: Journal Article
Alternative Title : Am J Med Genet A.

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fulltext.pdf (Any fulltext), 173KB
 
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 Creators:
Douzgou, Sofia, Author
Lehmann, Katarina, Author
Mingarelli, Rita, Author
Mundlos, Stefan1, Author              
Dallapiccola, Bruno, Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: Du Pan • chondrodysplasia • GDF5 • brachydactyly • fibular hypoplasia
 Abstract: Du Pan type chondrodysplasia (DPC) represents the milder end of homozygous growth differentiation factor 5 (GDF5) disorders. We report on a 20-month-old child with complex brachydactyly and mild proximal fibular hypoplasia, consistent with DPC, in the absence of other anomalies of long bones and joints. Mutational analysis disclosed two novel GDF5 mutations within the protein's mature domain and in the cleavage site of the prodomain which explains the distinct DPC phenotype found in this patient. The unaffected mother and the father who presented with mild brachybaso/mesophalangy of all digits were both heterozygous carriers.

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Language(s): eng - English
 Dates: 2008-07-15
 Publication Status: Published in print
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 Table of Contents: -
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Title: American Journal of Medical Genetics Part A
  Alternative Title : Am J Med Genet A.
Source Genre: Journal
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Publ. Info: -
Pages: - Volume / Issue: 146A (16) Sequence Number: - Start / End Page: 2116 - 2121 Identifier: -