Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis

Author:

Lee Hane,Graham John M.,Rimoin David L.,Lachman Ralph S.,Krejci Pavel,Tompson Stuart W.,Nelson Stanley F.,Krakow Deborah,Cohn Daniel H.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference22 articles.

1. Acrodysostosis;Maroteaux;Presse Med.,1968

2. Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation;Robinow;Am. J. Dis. Child.,1971

3. Older paternal age and fresh gene mutation: Data on additional disorders;Jones;J. Pediatr.,1975

4. Autosomal dominant transmission of acrodysostosis;Steiner;Clin. Dysmorphol.,1992

5. Acrodysostosis: Autosomal dominant transmission;Sheela;Indian Pediatr.,2005

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