Research view
| Title: | Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. |
| Author: | Zaki M, Shehab M, El-Aleem AA, Abdel-Salam G, Koeller HB, Ilkin Y, Ross ME, Dobyns WB, Gleeson JG. |
| Abstract: |
Two siblings from a consanguineous Egyptian marriage showed an identical
phenotype of cortical lissencephaly with cerebellar hypoplasia, severe epilepsy,
and mental retardation. Examination of karyotype revealed 46, t(7;12)(q22;p13)mat
(7;12)(q22;p1
|
| Journal: | J Med Genet A. 2007 May 1;143A(9):939-44. |