WebCoffin-Lowry syndrome was first identified as a distinct syndrome in 1966, when Coffin and colleagues noted two unrelated male patients with an X-linked disease marked by severe mental retardation (MR), short stature, skeletal deformities, and large, soft hands with tapering fingers [ 1 ]. WebSep 1, 2002 · The Coffin-Lowry syndrome has become well established since the first report of affected patients by Coffin et al. [1966: Am J Dis Child 112:205-213]. Since that time over a hundred cases...
Síndrome de Coffin Lowry, características odontológicas, revisión …
WebJul 15, 2004 · Coffin-Lowry syndrome (CLS) is a rare but well-documented X-linked disorder characterized by small size, developmental delay/mental retardation, and characteristic facial and skeletal findings in affected males. The phenotype in affected females is far more variable and can include developmental dif … Cardiomyopathy in … WebJul 16, 2002 · Coffin-Lowry syndrome (CLS) classically manifests in males with developmental delay, intellectual disability, neurologic manifestations (hypotonia, stimulus-induced drop attacks, spastic … repurposed island
Coffin Lowry Syndrome - an overview ScienceDirect Topics
WebAbstract. Coffin-Lowry syndrome (CLS) is an X-linked dominant condition characterized by moderate to severe mental retardation, characteristic facies, and hand and … WebDec 1, 2024 · Coffin-Lowry syndrome (CLS) is a rare X-linked mutation in the RSK2 gene that affects between 1/50 000 to 100 000 people. The condition was first described in 1966 by Coffin 1 and in 1971 by Lowry 2. The gene itself was identified in the mid-1990s and since then over 75 mutations have been identified in around 250 CLS patients. WebCoffin-Lowry syndrome (CLS) is a rare genetic disorder that causes distinctive physical features in many different parts of the body. It also affects brain development, leading to … repurposed jewelry box