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Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?
Makrythanasis, Periklis; Gimelli, Stefania; Béna, Frédérique; Dahoun, Sophie; Morris, Michael A; Antonarakis, Stylianos E; Bottani, Armand.
Affiliation
  • Makrythanasis P; Department of Genetic Medicine and Development, Geneva University Medical School, Geneva, Switzerland.
Eur J Med Genet ; 55(1): 63-6, 2012 Jan.
Article in En | MEDLINE | ID: mdl-22080113
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Abnormalities, Multiple / Chromosomes, Human, Pair 4 / Chromosome Deletion / Conserved Sequence / Homozygote Limits: Child, preschool / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2012 Document type: Article Affiliation country: Switzerland
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Abnormalities, Multiple / Chromosomes, Human, Pair 4 / Chromosome Deletion / Conserved Sequence / Homozygote Limits: Child, preschool / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2012 Document type: Article Affiliation country: Switzerland