Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy

Author:

Bisgaard A-M,Kirchhoff M,Nielsen JE,Kibaek M,Lund A,Schwartz M,Christensen E

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference18 articles.

1. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants;Barber;J Med Genet,2005

2. Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation;de Ravel;Cytogenet Genome Res,2006

3. Genetics of metachromatic leukodystrophy;Gieselmann;Gene Ther,1994

4. Adult metachromatic leukodystrophy: disorganized schizophrenia-like symptoms and postpartum depression in 2 sisters;Kumperscak;J Psychiatry Neurosci,2005

5. Enzyme, cell and gene-based therapies for metachromatic leukodystrophy;Sevin;J Inherit Metab Dis,2007

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