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Items: 4


Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome.

Didona B, Codispoti A, Bertini E, Rizzo WB, Carney G, Zambruno G, Dionisi-Vici C, Paradisi M, Pedicelli C, Melino G, Terrinoni A.

J Hum Genet. 2007;52(10):865-70.


Phenotypic variability among adult siblings with Sjögren-Larsson syndrome.

Lossos A, Khoury M, Rizzo WB, Gomori JM, Banin E, Zlotogorski A, Jaber S, Abramsky O, Argov Z, Rosenmann H.

Arch Neurol. 2006 Feb;63(2):278-80.


Confirmation of a double-hit model for the NF1 gene in benign neurofibromas.

Serra E, Puig S, Otero D, Gaona A, Kruyer H, Ars E, Estivill X, Lázaro C.

Am J Hum Genet. 1997 Sep;61(3):512-9.

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