Can I read Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene on EtoBox?

Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene by K. Szczaluba; K. Hilbert; E. Obersztyn; B. Zabel; T. Mazurczak; K. Kozlowski is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene about?

## Abstract Du Pan syndrome is a rare acromesomelic dysplasia with characteristic clinical and radiographic findings. It is inherited as an autosomal recessive trait. Almost all the patients reported have been from Muslim countries. We report on a female and her child with Du Pan syndrome from a Caucasian, Polish family. Three new heterozygous mutations clustered on one allele of the __CDMP1__ gene were identified in the affected individuals resulting in the first familial case with dominant Du Pan syndrome. A possible synergistic effect of the __cis__‐acting mutations located in the active domain of the mature CDMP1 protein is likely to be responsible for the clinical expression of the disorder. © 2005 Wiley‐Liss, Inc.

Who reads Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene?

Author

K. Szczaluba; K. Hilbert; E. Obersztyn; B. Zabel; T. Mazurczak; K. Kozlowski

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 1552-4825)

Published

2005

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)