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    Langer-Giedion Syndrome: A Distinct Phenotype
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    “…Langer-Giedion syndrome is a very uncommon autosomal dominant genetic disorder caused by the deletion of chromosomal material. …”
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    Langer-Giedion Syndrome: a Rare Case Report
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    “…We report two Japanese patients with Schinzel–Giedion syndrome. When polyhydramnios is observed, additional fetal findings such as overlapping fingers, hydrocephalus, hydronephrosis, and very characteristic facial appearance comprising high, prominent forehead, hypertelorism, and depressed nasal root may suggest Schinzel–Giedion syndrome.…”
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    Genetic and prenatal findings in two Japanese patients with Schinzel–Giedion syndrome
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    “…INTRODUCTION: Langer-Giedion syndrome (trichorhinophalangeal syndrome type II) is an extremely rare disorder characterized by dysmorphic facial features, multiple exostoses, mental retardation and digit deformities. …”
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    Traumatic bone cyst of the mandible in Langer-Giedion syndrome: a case report
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    “…Schinzel-Giedion syndrome which is associated with midfacial hypoplasia and coarse dysmorphic features is a multiple congenital malformation syndrome. …”
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    Schinzel-Giedion syndrome: a case with sacrococcygeal teratoma and cor-triatriatum dexter
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    por Acuna-Hidalgo, Rocio, Deriziotis, Pelagia, Steehouwer, Marloes, Gilissen, Christian, Graham, Sarah A., van Dam, Sipko, Hoover-Fong, Julie, Telegrafi, Aida B., Destree, Anne, Smigiel, Robert, Lambie, Lindsday A., Kayserili, Hülya, Altunoglu, Umut, Lapi, Elisabetta, Uzielli, Maria Luisa, Aracena, Mariana, Nur, Banu G., Mihci, Ercan, Moreira, Lilia M. A., Borges Ferreira, Viviane, Horovitz, Dafne D. G., da Rocha, Katia M., Jezela-Stanek, Aleksandra, Brooks, Alice S., Reutter, Heiko, Cohen, Julie S., Fatemi, Ali, Smitka, Martin, Grebe, Theresa A., Di Donato, Nataliya, Deshpande, Charu, Vandersteen, Anthony, Marques Lourenço, Charles, Dufke, Andreas, Rossier, Eva, Andre, Gwenaelle, Baumer, Alessandra, Spencer, Careni, McGaughran, Julie, Franke, Lude, Veltman, Joris A., De Vries, Bert B. A., Schinzel, Albert, Fisher, Simon E., Hoischen, Alexander, van Bon, Bregje W.
    Publicado 2017
    “…Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. …”
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    Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
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    “…Schinzel–Giedion syndrome (SGS) is a multiple malformation syndrome characterized by typical facial features, severe neurodevelopmental delay, and multiple congenital abnormalities. …”
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    Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel–Giedion syndrome
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    “…Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant disorder that results in facial dysmorphism, multiple congenital anomalies, and an increased risk of malignancy. …”
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    Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features
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    “…The investigation of genetic forms of juvenile neurodegeneration could shed light on the causative mechanisms of neuronal loss. Schinzel-Giedion syndrome (SGS) is a fatal developmental syndrome caused by mutations in the SETBP1 gene, inducing the accumulation of its protein product. …”
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    SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome
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    “…These two genes could fully explain the disease phenotype with facial dysmorphisms and bone abnormality, which is likely a contiguous gene syndrome, Cornelia de Lange syndrome type IV (CdLs-4) and atypical Langer–Giedion syndrome (LGS), also known as trichorhinophalangeal syndrome type II (TRPSII). …”
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    Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer–Giedion syndrome and Cornelia de Lange syndrome-4
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    por Kepes, Gyorgy, 1906-2001
    Publicado 1995
    Libro
    Language of vision
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    “…Schinzel Giedion Syndrome (SGS) is an ultra‐rare autosomal dominant Mendelian disease presenting with abnormalities spanning multiple organ systems. …”
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    Cell‐type‐specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1 (S858R) Schinzel Giedion Syndrome mice
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    Libro
    Espacio, tiempo y arquitectura : el futuro de una nueva tradición
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    Materias: “…Giedion, S. (Sigfried), 1888-1968 Crítica e interpretación.…”
    Libro
    Escritos escogidos
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    “…Features common to all three subtypes include sparse, slowly growing scalp hair, laterally sparse eyebrows, a bulbous tip of the nose (pear-shaped), and protruding ears. Langer–Giedion syndrome (LGS) or TRPS type II is a contiguous gene syndrome on 8q24.1, involving loss of functional copies of the TRPS1 and EXT1 genes. …”
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    An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4
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    Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4
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    “…BACKGROUND: Schinzel-Giedion syndrome (SGS) is a multiple malformation syndrome mainly characterized by severe intellectual disability, distinctive facial features, and multiple congenital anomalies, including skeletal abnormalities, genitourinary and renal malformations, cardiac defects, as well as an increased pediatric cancer risk. …”
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    The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate
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    Libro
    Espacio, tiempo y arquitectura : origen y desarrollo de una nueva tradición
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    Libro
    Espacio, tiempo y arquitectura : el futuro de una nueva tradición /
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    Libro
    El presente eterno : una aportación al tema de la constancia y el cambio
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