A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype

[1]  N. Chiu,et al.  A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease. , 2017, Pediatrics and neonatology.

[2]  L. Møller.  Small amounts of functional ATP7A protein permit mild phenotype. , 2015, Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements.

[3]  Z. Tümer.  An Overview and Update of ATP7A Mutations Leading to Menkes Disease and Occipital Horn Syndrome , 2013, Human mutation.

[4]  Z. Tümer,et al.  Splice Site Mutations in the ATP7A Gene , 2011, PloS one.

[5]  A. Toutain,et al.  Twenty‐five novel mutations including duplications in the ATP7A gene , 2011, Clinical genetics.

[6]  S. Kaler,et al.  Molecular correlates of epilepsy in early diagnosed and treated Menkes disease , 2010, Journal of Inherited Metabolic Disease.

[7]  T. Ferguson,et al.  Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. , 2010, American journal of human genetics.

[8]  D. Goldstein,et al.  Neonatal diagnosis and treatment of Menkes disease. , 2008, The New England journal of medicine.

[9]  A. Bassuk,et al.  Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome , 2007, Journal of Medical Genetics.

[10]  R. Rossi,et al.  Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family. , 2004, The Journal of pediatrics.

[11]  T. Glover,et al.  A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. , 2001, American journal of human genetics.

[12]  H. Ushijima,et al.  ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. , 2001, American journal of medical genetics.

[13]  Z. Tümer,et al.  Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. , 2000, American journal of human genetics.

[14]  S. Packman,et al.  A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome. , 1996, Human molecular genetics.

[15]  S. Kaler.  Menkes disease and occipital horn syndrome. , 1995, Canadian Association of Radiologists journal = Journal l'Association canadienne des radiologistes.

[16]  S. Packman,et al.  Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. , 1995, American journal of human genetics.

[17]  D. Goldstein,et al.  Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus , 1994, Nature Genetics.

[18]  D. Sartoris,et al.  Type IX Ehlers-Danlos syndrome. A new variant with pathognomonic radiographic features. , 1984, Radiology.

[19]  Z. Tümer,et al.  Identification of point mutations in 41 unrelated patients affected with Menkes disease. , 1997, American journal of human genetics.

[20]  M. Kaiser-Kupfer,et al.  Menkes disease. , 1994, Advances in pediatrics.