Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13)
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32615/fullpdf
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3. The trichorhinophalangeal syndrome(s): Chromosome 8 long arm deletion: Is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: Are they separate entities? (Editorial);Bühler;Am J Med Genet,1984
4. A final word on the tricho-rhino-phalangeal syndromes;Bühler;Clin Genet,1987
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1. Case report: A novel mutation in TRPS1 identified in a Chinese family with tricho-rhino-phalangeal syndrome I: A therapeutic challenge;Frontiers in Pediatrics;2022-11-18
2. Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome;Cytogenetic and Genome Research;2022
3. Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report;BMC Medical Genetics;2018-12
4. High-functioning autism in a Sri Lankan youth with Langer–Giedion syndrome;Psychiatric Genetics;2018-06
5. Síndrome de Langer-Giedion con deleción 8q23.1-q24.12, diagnosticado por hibridación genómica comparativa;archivos Argentinos de Pediatria;2016-08-01
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