R. I. Ortiz de Luna

The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16.

M. Polymeropoulos, J. Weissenbach, J. Goodship, 1996, Genomics.

Achondroplasia is defined by recurrent G380R mutations of FGFR3.

I. Kaitila, T. Hefferon, G. Bellus, 1995, American journal of human genetics.

A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis.

M. Polymeropoulos, M. Johnson, H. L. Vos, 1996, Genome research.

Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.

D. Meyers, S. Blanton, J. Murray, 1994, Human molecular genetics.

Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21.

A. Dehejia, M. Polymeropoulos, M. Johnson, 1997, Matrix biology : journal of the International Society for Matrix Biology.

Clinical delineation of a patient with trisomy 1q32.qter and monosomy 5p resulting from a familial translocation 1;5.

C. García Delgado, M. Ramírez-Ortiz, R. I. Ortiz de Luna, 2010, Genetic counseling.