Chromosomal deletion unmasking a recessive disease : 22ql3 deletion syndrome and metachromatic leukodystrophy

• Published in: Clinical genetics Vol. 75; no. 2; pp. 175 - 179
• Main Authors: BISGAARD, A.-M, KIRCHHOFF, M, NIELSEN, J. E, KIBAEK, M, LUND, A, SCHWARTZ, M, CHRISTENSEN, E
• Format: Journal Article
• Language: English
• Published: Oxford Wiley-Blackwell 2009
• Subjects: Biological and medical sciences; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genetics of eukaryotes. Biological and molecular evolution; Medical genetics; Medical sciences; Molecular and cellular biology; Neurology; Chromosomal aberration; arrayCGH; arylsulfatase A; Lipids; Esterases; Sphingolipidosis; Enzymopathy; Deletion; Genetics; Degenerative disease; Lipoidosis; 22q13 deletion; Human; Cerebroside-sulfatase; Metachromatic leukodystrophy; Nervous system diseases; Enzyme; Metabolic diseases; Syndrome; Cerebral disorder; Genetic disease; Central nervous system disease; Hydrolases; Recessive character; Sulfuric ester hydrolases
• ISSN: 0009-9163; 1399-0004