Pfeiffer syndrome with FGFR2 W290C mutation perinatally presenting extreme proptosis

פריטים דומים

• Pfeiffer syndrome with FGFR2 W290C mutation perinatally presenting extreme proptosis
  מאת: Chih-Ping Chen, et al.
  יצא לאור: (2013-12-01)
• Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II
  מאת: Chih-Ping Chen, et al.
  יצא לאור: (2013-09-01)
• Prenatal diagnosis of mosaic trisomy 8 by amniocentesis in a fetus with ventriculomegaly and dysgenesis of the corpus callosum
  מאת: Chih-Ping Chen, et al.
  יצא לאור: (2020-01-01)
• Surgical reconstruction of congenital thumb hypoplasia
  מאת: Michael Tonkin
  יצא לאור: (2011-01-01)
• Detection of paternal origin of fetal trisomy 21 in a pregnancy with isolated ventriculomegaly but without advanced parental age
  מאת: Chih-Ping Chen, et al.
  יצא לאור: (2020-07-01)