An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions-Reference-Cited by-同舟云学术

An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions

Published:2009-09 Issue:5 Volume:52 Page:353-357
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Verheij J.B.G.M.,de Munnik S.A.,Dijkhuizen T.,de Leeuw N.,Olde Weghuis D.,van den Hoek G.J.,Rijlaarsdam R.S.,Thomasse Y.E.M.,Dikkers F.G.,Marcelis C.L.M.,van Ravenswaaij-Arts C.M.A.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference14 articles.

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3. Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome;Fennell;J. Med. Genet.,1989

4. A. Schinzel, Catalogue of unbalanced chromosome aberrations in man, In: Anonymous, 2001.

5. Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8;Ludecke;Hum. Genet.,1999

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