Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual.

Wierzba, Jolanta

Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual. [electronic resource] - BMC medical genetics Jun 2012 - 43 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1471-2350

10.1186/1471-2350-13-43 doi


Cell Cycle Proteins
Child
De Lange Syndrome--genetics
Female
Frameshift Mutation
Humans
Lymphocytes
Mosaicism
Mouth Mucosa
Proteins--genetics
Severity of Illness Index
Turner Syndrome--genetics