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Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect

BACKGROUND: Recent development of MLPA (Multiplex-Ligation-dependent Probe Amplification, MRC-Holland) and microarray technology allows detection of a wide range of new submicroscopic abnormalities. Publishing new cases and case reviews associated with both clinical abnormalities and a normal phenot...

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Detalles Bibliográficos
Autores principales: Srebniak, Malgorzata I, Boter, Marjan, Verboven-Peerden, Carla MA, Looye-Bruinsma, Gerda AG, Oudesluijs, Gretel, Galjaard, Robert-Jan H, Van Opstal, Diane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3287247/
https://www.ncbi.nlm.nih.gov/pubmed/22136596
http://dx.doi.org/10.1186/1755-8166-4-27