In the active subcohort, there are only 31 (6.3%) subjects in whom the inheritance pattern was unknown, indicating a de novo rate of 79%. In the PAC, 12.7% were born prematurely (<37 weeks gestation). A small proportion of the PAC had undertaken surgical or medical treatments to alter...
This combination of osteological and archival data creates a unique opportunity to track the inheritance and manifestation of a rare disease in a past population.doi:10.1016/j.ijpp.2013.08.004Waters-Rist, Andrea L.Hoogland, Menno L.P.ESInternational Journal of Paleopathology...
PSACH families have mostly demonstrated an autosomal dominant inheritance pattern; however, in few cases, spontaneous germline or somatic mutations have been suspected. In few percent, the presence of COMP mutation can be due to germline mosaicism affecting the parents; however, limited data are ...