David L Rimoin

Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision

Sheila Unger, Andrea Superti-Furga, Stefan Mundlos, 2011, American journal of medical genetics. Part A.

Exome sequencing identifies PDE4D mutations in acrodysostosis.

Hane Lee, Deborah Krakow, Stanley F Nelson, 2012, American journal of human genetics.

A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis.

Andrew Spencer, J. Graham, D. Rimoin, 2009, European journal of medical genetics.

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Andrea Superti-Furga, Sebastian Wachsmann-Hogiu, Judith Allanson, 2004, Nature Genetics.