Affiliation: Medical University
- Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individualJolanta Wierzba
Department of Pediatrics, Hematology, Oncology and Endocrinology, Medical University of Gdansk, Poland
BMC Med Genet 13:43. 2012..Turner syndrome (TS) results from the partial or complete absence of one of the X chromosomes, usually associated with congenital lymphedema, short stature, and gonadal dysgenesis...