Pseudo-TORCH-Syndrom

Briggs TA et al. (2008) Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.

O'Driscoll MC et al. (2010) Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.

Knoblauch H et al. (2003) Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome).

Meuwissen ME et al. (2016) Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

Crow YJ et al. (2000) Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

Crow YJ et al. (2003) Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism.

Burn J et al. (1986) A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection.

Baraitser M et al. (1983) Microcephaly and intracranial calcification in two brothers.

Reardon W et al. (1994) Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease.

Monastiri K et al. (1997) Microcephaly and intracranial calcification: two new cases.

Slee J et al. (1999) Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification.

Abdel-Salam GM et al. (2008) Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome.

Abdel-Salam GM et al. (2009) Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: a distinctive form of congenital infection like syndromes.

LeBlanc MA et al. (2013) A novel rearrangement of occludin causes brain calcification and renal dysfunction.