B. Köster

Classic and Atypical FOP Phenotypes are Caused by Mutations in the BMP Type I Receptor ACVR 1

S. Mundlos, W. Reardon, R. Pauli, 2011 .

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

S. Mundlos, W. Reardon, R. Pauli, 2009, Human mutation.

Hämoglobin-SD-Erkrankung

H. Laws, R. Dickerhoff, J. Mayer, 1993 .

Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation.

D. Wieczorek, B. Köster, G. Gillessen‐Kaesbach, 2002, American journal of medical genetics.