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Cornelia de Lange syndrome associated with a de-novo novel NIPBL splice-site mutation and a coincidental inherited translocation t(3;5)(p13;q11)
Wierzba, Jolanta, Kuzniacka, Alina, Ratajska, Magdalena, Lipska, Beata Stefania, Kardas, Iwona, Iliszko, Mariola, Limon, JanuszVolume:
20
Language:
english
Journal:
Clinical Dysmorphology
DOI:
10.1097/MCD.0b013e3283455175
Date:
October, 2011
File:
PDF, 117 KB
english, 2011