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Tibial hemimelia associated with GLI3 truncation
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نویسنده
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Deimling Steven ,Sotiropoulos Chris ,Lau Kimberly ,Chaudhry Sonia ,Sturgeon Kendra ,Kelley Simon ,Narayanan Unni ,Howard Andrew ,Hui Chi-chung ,Hopyan Sevan
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منبع
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journal of human genetics - 2016 - دوره : 61 - شماره : 5 - صفحه:443 -446
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چکیده
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Tibial hemimelia is a rare, debilitating and often sporadic congenital deficiency. in syndromic cases, mutations of a sonic hedgehog (shh) enhancer have been identified. here we describe an ~5 kb deletion within the shh repressor gli3 in two patients with bilateral tibial hemimelia. this deletion results in a truncated gli3 protein that lacks a dna-binding domain and cannot repress hedgehog signaling. these findings strengthen the concept that tibial hemimelia arises because of failure to restrict shh activity to the posterior aspect of the limb bud.
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آدرس
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The Hospital for Sick Children, Program in Developmental and Stem Cell Biology, Canada, The Hospital for Sick Children, Program in Developmental and Stem Cell Biology, Canada, The Hospital for Sick Children, Program in Developmental and Stem Cell Biology, Canada, The Hospital for Sick Children and University of Toronto, Division of Orthopaedic Surgery, Canada, The Hospital for Sick Children, Program in Developmental and Stem Cell Biology, Canada, The Hospital for Sick Children and University of Toronto, Division of Orthopaedic Surgery, Canada, The Hospital for Sick Children and University of Toronto, Division of Orthopaedic Surgery, Canada, The Hospital for Sick Children and University of Toronto, Division of Orthopaedic Surgery, Canada, The Hospital for Sick Children, Program in Developmental and Stem Cell Biology, Canada. University of Toronto, Department of Molecular Genetics, Canada, The Hospital for Sick Children, Program in Developmental and Stem Cell Biology, Canada. The Hospital for Sick Children and University of Toronto, Division of Orthopaedic Surgery, Canada. University of Toronto, Department of Molecular Genetics, Canada
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Authors
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