Associated Papers
Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant.
Perea-Cabrera M et al.
Molecular Genetics & Genomic Medicine, 2023
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation.
Hsieh EW et al.
American Journal of Medical Genetics. Part A, 2008
MID1 mutations in patients with X-linked Opitz G/BBB syndrome.
Fontanella B et al.
Human Mutation, 2008
Structure of the MID1 tandem B-boxes reveals an interaction reminiscent of intermolecular ring heterodimers.
Tao H et al.
Biochemistry, 2008
Solution structure of the MID1 B-box2 CHC(D/C)C(2)H(2) zinc-binding domain: insights into an evolutionarily conserved RING fold.
Massiah MA et al.
Journal of Molecular Biology, 2007
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.
De Falco F et al.
American Journal of Medical Genetics. Part A, 2003
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