Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation-Reference-Cited by-同舟云学术

Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation

Published:2008-11-15 Issue:22 Volume:146A Page:2944-2949
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

van Steensel M.A.M.,Vreeburg M.,Engelen J.,Ghesquiere S.,Stegmann A.P.A.,Herbergs J.,van Lent J.,Smeets B.,Vles J.H.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference15 articles.

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3. Cloning of a cDNA for steroid sulfatase: Frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis;Bonifas;Proc Natl Acad Sci USA,1987

4. An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits;Doherty;Epilepsia,2003

5. High resolution R- and G-banding on the same preparation;Dutrillaux;Hum Genet,1981

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