Familial Pelizaeus–Merzbacher disease caused by a 320.6‐kb Xq22. 2 duplication and the pathological findings of a male fetus

Citation:

Kitsiou‐Tzeli S, Konstantinidou A, Sofocleous C, Kosma K, Syrmou A, Giannikou K, Sifakis S, Makrythanasis P, Tzetis M. Familial Pelizaeus–Merzbacher disease caused by a 320.6‐kb Xq22. 2 duplication and the pathological findings of a male fetus. Birth Defects Research Part A: Clinical and Molecular Teratology. 2012;94(6):494-498.