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Maternally inherited deletion encompassing the RTL1as and MEG8 genes of the human 14q32 imprinted region in a patient with a mild Kagami-Ogata syndrome phenotype.
Sirera Sirera, Paula; García-Payá, Elena; Olivas García, Julia; Jadraque Rodríguez, Rocío; Hernández Romero, Sofía Daniela.
Affiliation
  • Sirera Sirera P; Laboratory of Molecular Cytogenetics, Instituto de Investigación Sanitaria y Biomédica de Alicante (ISABIAL), Hospital General Universitario de Dr. Balmis de Alicante, Alicante, Spain.
  • García-Payá E; Laboratory of Molecular Cytogenetics, Instituto de Investigación Sanitaria y Biomédica de Alicante (ISABIAL), Hospital General Universitario de Dr. Balmis de Alicante, Alicante, Spain.
  • Olivas García J; Laboratory of Molecular Cytogenetics, Instituto de Investigación Sanitaria y Biomédica de Alicante (ISABIAL), Hospital General Universitario de Dr. Balmis de Alicante, Alicante, Spain.
  • Jadraque Rodríguez R; Department of Pediatrics, Instituto de Investigación Sanitaria y Biomédica de Alicante (ISABIAL), Hospital General Universitario de Dr. Balmis de Alicante, Alicante, Spain.
  • Hernández Romero SD; Laboratory of Molecular Cytogenetics, Instituto de Investigación Sanitaria y Biomédica de Alicante (ISABIAL), Hospital General Universitario de Dr. Balmis de Alicante, Alicante, Spain.
Am J Med Genet A ; 191(8): 2225-2231, 2023 08.
Article in En | MEDLINE | ID: mdl-37222159
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Chromosome Disorders Limits: Female / Humans / Newborn / Pregnancy Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: España Country of publication: Estados Unidos
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Chromosome Disorders Limits: Female / Humans / Newborn / Pregnancy Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: España Country of publication: Estados Unidos