Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference12 articles.
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2. Chromosome deletion and multiple cartilaginous exostoses
3. A final word on the tricho-rhino-phalangeal syndromes
4. (1986): Detection of microdeletions with high-resolution cytogenetics and DNA probes. In (ed): “DNA Probes Applications in Genetic and Infectious Disease and Cancer.” Cold Spring Harbor, NY: Cold Spring Harbor Laboratory, pp 49-55.
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1. Molecular Cytogenetics and Prenatal Diagnosis;Genetic Disorders and the Fetus;2015-11-23
2. SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant;The American Journal of Human Genetics;2013-11
3. Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I;European Journal of Medical Genetics;2011-07
4. Molecular Cytogenetics and Prenatal Diagnosis;Genetic Disorders and the Fetus;2010-09-24
5. Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13);American Journal of Medical Genetics Part A;2008-12-15
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