Conference Proceedings
Heterozygous BMP2 mutations leading to haploinsufficiency cause a recognisable human syndrome comprising short stature, palatal anomalies, congenital heart disease and skeletal malformations
TY Tan, E Bhoj, K Strauss, K Brigatti, E Puffenberger, D Li, CG Gonzaga-Jauregui, PJ Simm, BO Jones, M Raabus, L Miles, M Ramialison, J Kaslin, NL Baker, PG Farlie
EUROPEAN JOURNAL OF HUMAN GENETICS | NATURE PUBLISHING GROUP | Published : 2018