Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity

By Mallery D.  

Human Molecular Genetics, Vol. 8, Iss. 5, 1999-05 ,pp. : 935-941

Oxford University Press

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Impaired neural development in a zebrafish model for Lowe syndrome

By Ramirez Irene Barinaga-Rementeria   Pietka Grzegorz   Jones David R.   Divecha Nullin   Alia A.   Baraban Scott C.   Hurlstone Adam F. L.   Lowe Martin  

Human Molecular Genetics, Vol. 21, Iss. 8, 2012-04 ,pp. : 1744-1759

Oxford University Press

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Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

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Molecular Syndromology, Vol. 4, Iss. 3, 2012-10 ,pp. : 107-113

Karger

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A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes

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American Journal Of Medical Genetics Part A, Vol. 167, Iss. 11, 2015-11 ,pp. : 2691-2696

John Wiley & Sons Inc

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The Lowe syndrome protein OCRL1 is involved in primary cilia assembly

By Coon Brian G.   Hernandez Victor   Madhivanan Kayalvizhi   Mukherjee Debarati   Hanna Claudia B.   Barinaga-Rementeria Ramirez Irene   Lowe Martin   Beales Philip L.   Aguilar R. Claudio  

Human Molecular Genetics, Vol. 21, Iss. 8, 2012-04 ,pp. : 1835-1847

Oxford University Press

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