Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly
Journal of Medical Genetics
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13q34 Google OMIM Orphanet PubMed [Porencephaly] Porencephaly, familial *Gene map locus 13q34 ADT1P Hemiplegia, infantile, with porencephaly Porencephaly, type 1 Porencephaly, type 1, autosomal dominant T1P [Clinical features: encephaloclastic porencephaly; usually unilateral; it results from focal destructive lesions such as fetal vascular occlusion or birth trauma] [Inheritance: autosomal dominant] |
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Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly |
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Journal of Medical Genetics |
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Edited by Aldo Campana,
August 21, 2012
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