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Neuropathological analysis of an adult case of the Cornelia de Lange syndrome

✍ Scribed by Nicolas Vuilleumier; Enikö Kövari; Agnès Michon; Patrick R. Hof; Georges Mentenopoulos; Panteleimon Giannakopoulos; Constantin Bouras

Publisher
Springer-Verlag
Year
2002
Tongue
English
Weight
206 KB
Volume
104
Category
Article
ISSN
0001-6322

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## Abstract Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome, characterized by distinctive facial features, generalized hirsutism, growth and cognitive dysfunction, microcephaly and limb abnormalities. Currently mutations of three different genes, __NIP