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Select item 48629611.

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

Marco Savarese, Olimpia Musumeci, Teresa Giugliano, Anna Rubegni, Chiara Fiorillo, Fabiana Fattori, Annalaura Torella, Roberta Battini, Carmelo Rodolico, Aniello Pugliese, Giulio Piluso, Lorenzo Maggi, Adele D'Amico, Claudio Bruno, Enrico Bertini, Filippo Maria Santorelli, Marina Mora, Antonio Toscano, Carlo Minetti, Vincenzo Nigro

Neuromuscul Disord. 2016 Apr-May; 26(4-5): 292–299. doi: 10.1016/j.nmd.2016.02.004

PMCID:: PMC4862961

Article

Select item 4199922.

Contiguous Deletion of the X-Linked Adrenoleukodystrophy Gene (ABCD1) and DXS1357E: A Novel Neonatal Phenotype Similar to Peroxisomal Biogenesis Disorders

Deyanira Corzo, William Gibson, Kisha Johnson, Grant Mitchell, Guy LePage, Gerald F. Cox, Robin Casey, Carolyn Zeiss, Heidi Tyson, Garry R. Cutting, Gerald V. Raymond, Kirby D. Smith, Paul A. Watkins, Ann B. Moser, Hugo W. Moser, Steven J. Steinberg

Am J Hum Genet. 2002 Jun; 70(6): 1520–1531. Published online 2002 Apr 29. doi: 10.1086/340849