Partial trisomy 17p12pter, associated with pre and postnatal growth retardation, dysmorphic facial and digital features, developmental delay, and signs of HMSN1 in early childhood.
作者信息
Vogt J, Hill S, Brueton L
出版信息
Eur J Med Genet. 2006 Sep-Oct;49(5):439-43. doi: 10.1016/j.ejmg.2006.01.002. Epub 2006 Feb 3.