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Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.
Knight Johnson A, Schaefer GB, Lee J, Hu Y, Del Gaudio D. Alu-mediated deletion of PIGL in a Patient with CHIME syndrome. Am J Med Genet A. 2017 May; 173(5):1378-1382.
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PubMed
subject areas
Alleles
Alu Elements
Child, Preschool
Coloboma
Hearing Loss, Conductive
Heart Defects, Congenital
Humans
Ichthyosis
Intellectual Disability
Introns
Male
N-Acetylglucosaminyltransferases
Neurocutaneous Syndromes
Sequence Deletion
authors with profiles
Gerald Schaefer
Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.