Literature DB >> 3834201

Two siblings with microcephaly associated with calcification of cerebral white matter.

T Ishitsu, S Chikazawa, I Matsuda.   

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Year:  1985        PMID: 3834201     DOI: 10.1007/BF01876471

Source DB:  PubMed          Journal:  Jinrui Idengaku Zasshi        ISSN: 0021-5074


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  4 in total

1.  Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

Authors:  Y J Crow; A P Jackson; E Roberts; E van Beusekom; P Barth; P Corry; C D Ferrie; B C Hamel; R Jayatunga; G Karbani; R Kálmánchey; A Kelemen; M King; R Kumar; J Livingstone; R Massey; R McWilliam; A Meager; C Rittey; J B Stephenson; J L Tolmie; A Verrips; T Voit; H van Bokhoven; H G Brunner; C G Woods
Journal:  Am J Hum Genet       Date:  2000-05-25       Impact factor: 11.025

2.  Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.

Authors:  L I al-Gazali; L Sztriha; A Dawodu; E Varady; M Bakir; A Khdir; J Johansen
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

3.  Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity.

Authors:  C G Bönnemann; P Meinecke; H Reich
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

Review 4.  The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

Authors:  J L Tolmie; P Shillito; R Hughes-Benzie; J B Stephenson
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318

  4 in total

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