Aktuell

Publikationen unter Beteiligung des MGZ im Mai

…die aktuellen Themen:

The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes.
McMacken G, Abicht A, Evangelista T, Spendiff S, Lochmüller H.
Neuropediatrics. 2017 May 15.

Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.
Morak M, Käsbauer S, Kerscher M, Laner A, Nissen AM, Benet-Pagès A, Schackert HK, Keller G, Massdorf T, Holinski-Feder E.
Fam Cancer. 2017 May 20.

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Adés LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP.
Am J Med Genet A. 2017 May 12

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