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A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect.
Zayed, Hatem; Chao, Ryan; Moshrefi, Ali; Lopezjimenez, Nelson; Delaney, Allen; Chen, Justin; Shaw, Gary M; Slavotinek, Anne M.
Affiliation
  • Zayed H; Department of Pediatrics, Division of Genetics, University of California, San Francisco, California 94143-0748, USA.
Am J Med Genet A ; 152A(4): 916-23, 2010 Apr.
Article in En | MEDLINE | ID: mdl-20358601
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 18 / Microphthalmos / Chromosome Deletion / Inheritance Patterns / DNA-Binding Proteins / Hernia, Diaphragmatic Limits: Animals / Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2010 Document type: Article Affiliation country: United States Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 18 / Microphthalmos / Chromosome Deletion / Inheritance Patterns / DNA-Binding Proteins / Hernia, Diaphragmatic Limits: Animals / Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2010 Document type: Article Affiliation country: United States Country of publication: United States