Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux.

Authors: Cynthia F. Bartels¹, Hülya Beükülmez^2,3, Pius Padayatti⁴, David K. Rhee¹, Conny van Ravenswaaij-Arts⁵, Richard M. Pauli⁶, Stefan Mundlos⁷, David Chitayat⁸, Ling-Yu Shih⁹, Lihadh I. Al-Gazali¹⁰, Sarina Kant¹¹, Trevor Cole¹², Jenny Morton¹², Valérie Cormier-Daire¹³, Laurence Faivre¹⁴, Melissa Lees¹⁵, Jeremy Kirk¹⁶, Geert R. Mortier¹⁷, Jules Leroy¹⁷, Bernhard Zabel¹⁸

Source: American Journal of Human Genetics. Jul2004, Vol. 75 Issue 1, p27-34. 8p.

Subject Terms: *GENETIC mutation, *PEPTIDES, *DYSPLASIA, *CELL transformation, *PROTEINS, *DNA