Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.

@article{RodrguezCriado2005ClinicalAM,
  title={Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.},
  author={Germ{\'a}n Rodr{\'i}guez-Criado and Luis F Magano and Mabel Segovia and Fiorella Gurrieri and Giovanni Neri and Antonio Gonz{\'a}lez-Meneses and Ignacio G{\'o}mez de Terreros and Rita Vald{\'e}z and Ricardo Grac{\'i}a and P Lapunzina},
  journal={American journal of medical genetics. Part A},
  year={2005},
  volume={138A 3},
  pages={272-7}
}
The Simpson-Golabi-Behmel syndrome (SGBS) (OMIM 312870) is an overgrowth/multiple congenital anomalies syndrome caused by a semi-dominant X-linked gene encoding glypican 3 (GPC3). It shows great clinical variability, ranging from mild forms in carrier females to lethal forms with failure to thrive in males. The most consistent findings in SGBS are pre- and postnatal macrosomia, characteristic facial anomalies and abnormalities affecting the internal organs, skeleton, and on some occasions… CONTINUE READING