A familialGLI2deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype
Author:
Affiliation:
1. Praxis für Humangenetik; Greifswald Germany
2. Children; ́; s Hospital; University of Greifswald; Greifswald Germany
3. Institute of Human Genetics; University Hospital RWTH Aachen University; Aachen Germany
Funder
Bundesministerium für Bildung und Forschung (Network “Imprinting Diseases,”)
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36972/fullpdf
Reference15 articles.
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2. Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I;Abdel-Salam;Am J Med Genet A,2012
3. Chromosome 2 interstitial deletion (del(2)(q14.1q21)) associated with connective tissue laxity and an attention deficit disorder;Baker;J Med Genet,2001
4. Use of multi-locus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci;Begemann;Epigenetics,2012
5. GLI2 mutations as a cause of hypopituitarism;Cohen;Pediatr Endocrinol Rev,2012
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