相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Schinzel-Giedion Syndrome in Two Brazilian Patients: Report of a Novel Mutation in SETBP1 and Literature Review of the Clinical Features
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Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective
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Cobblestone Lissencephaly in Schinzel-Giedion Syndrome
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Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case
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372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment
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SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome
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Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome
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Agenesis of the corpus callosum in Schinzel-Giedion syndrome associated with 47, XXY karyotype
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SET(BP1)-ing the stage for a better understanding of Schinzel-Giedion syndrome
S. Taubert
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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
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Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome
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Schinzel-Giedion syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria
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Clinical and radiological findings in Schinzel-Giedion syndrome
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Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel-Giedion syndrome
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Malignant retroperitoneal tumor arising in a multicystic dysplastic kidney of a girl with Schinzel-Giedion syndrome
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Schinzel-Giedion syndrome and alacrima: A case first described in 1996
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Schinzel-Giedion syndrome: a further cause of West syndrome
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Long-term survival in a patient with del(18)(q12.2q21.1)
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A Schinzel-Giedion-like syndrome - a milder version or a separate condition?
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Further clinical and sensorial delineation of Schinzel-Giedion syndrome: Report of two cases
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A case of Schinzel-Giedion syndrome complicated with progressive severe gingival hyperplasia and progressive brain atrophy
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Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET
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