Exclusion of growth factor gene mutations as a common cause of Sotos syndrome |
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Authors: | Qing Liu Glenn B Mannheim Basil T Darras |
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Institution: | 1. Core Laboratory, First Affiliated Hospital, Chongqing University of Medical Sciences, Chongqing, China;2. Princeton, New Jersey;3. Department of Neurology, Children's Hospital, Harvard Medical School, Boston, Massachusetts |
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Abstract: | Sotos syndrome is characterized by somatic overgrowth, i.e., macrocephaly and tall stature. Because the cause and pathogenesis of Sotos syndrome remain unknown, we selected nerve growth factor (NGF), brain‐derived neurotrophic factor (BDNF) and neurotrophin 3 (NT‐3) as possible genes mutated in Sotos syndrome. In seven patients with the classic phenotype, we excluded mutations in these growth factor genes. It is possible that these three genes are not involved in the cause of Sotos syndrome, or alternatively, mutations could not be identified in the small number of patients studied. © 2001 Wiley‐Liss, Inc. |
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Keywords: | cerebral gigantism growth factor macrocephaly macrosomia overgrowth syndromes Sotos syndrome |
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