Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon

Author:

Yasmeen Saiqa,Lund Katrine,De Paepe Anne,De Bie Sylvia,Heiberg Arvid,Silva João,Martins Márcia,Skjørringe Tina,Møller Lisbeth B

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference13 articles.

1. Menkes JH, Alter M, Steigleder GK, Weakley DR, Sung JH : A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration. Pediatrics 1962; 29: 764–779.

2. Kodama H, Murata Y : Molecular genetics and pathophysiology of Menkes disease. Pediatr Int 1999; 41: 430–435.

3. Das S, Levinson B, Vulpe C, Whitney S, Gitschier J, Packman S : Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. Am J Hum Genet 1995; 56: 570–576.

4. Møller LB, Mogensen M, Horn N : Molecular diagnosis of Menkes disease: genotype-phenotype correlation. Biochimie 2009; 91: 1273–1277.

5. De Paepe A, Loeys B, Devrient K, Fryns JP : Occipital horn syndrome in a 2 year old boy. Clin Dysmorphol 1999; 8: 179–183.

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