Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome

By Kalff-Suske Martha   Wild Anja   Topp Juliane   Wessling Martina   Jacobsen Eva-Maria   Bornholdt Dorothea   Engel Hartmut   Heuer Heike   Aalfs Cora M.  

Human Molecular Genetics, Vol. 8, Iss. 9, 1999-09 ,pp. : 1769-1777

Oxford University Press

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Homozygous deletion of TRMT10A as part of a contiguous gene deletion in a syndrome of failure to thrive, delayed puberty, intellectual disability and diabetes mellitus

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American Journal Of Medical Genetics Part A, Vol. 167, Iss. 12, 2015-12 ,pp. : 3167-3173

John Wiley & Sons Inc

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3p14 deletion is a rare contiguous gene syndrome: Report of 2 new patients and an overview of 14 patients

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John Wiley & Sons Inc

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Three‐generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome

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American Journal Of Medical Genetics Part A, Vol. 176, Iss. 3, 2018-03 ,pp. : 560-569

John Wiley & Sons Inc

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Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome

By Bartsch Oliver   Rasi Sasan   Delicado Alicia   Dyack Sarah   Neumann Luitgard   Seemanová Eva   Volleth Marianne   Haaf Thomas   Kalscheuer Vera  

Human Genetics, Vol. 120, Iss. 2, 2006-09 ,pp. : 179-186

Springer Publishing Company

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