S. Balg

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

D. Horn, S. Mundlos, S. Tinschert, 2003, European Journal of Human Genetics.

A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p)

A. Dufke, K. Eggermann, H. Enders, 2001, Cytogenetic and Genome Research.

Bibliography of Ulrich Wolf

C. Tyler-Smith, P. Yen, K. Hirschhorn, 2001, Cytogenetic and Genome Research.

Phenotypic spectrum associated with CASK loss-of-function mutations

Soma Das, R. Scott, E. Ortibus, 2011, Journal of Medical Genetics.

Mulibrey nanism

K. Boergen, C. Döhlemann, S. Stengel-Rutkowski, 1995, Clinical dysmorphology.

Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p.

T. Meitinger, S. Schuffenhauer, P. Lichtner, 1996, American journal of medical genetics.