Introduction to Coffin Lowry Syndrome
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They constituted 19 disorders, which are cherubism, Coffin-Lowry syndrome, congenital insensitivity to pain with anhidrosis, Fanconi–Bickel syndrome, Hajdu-Cheney syndrome, hypophosphatasia, hypophosphatemic rickets, kyphomelic dysplasia, lacrimoauriculodentodigital, Langerhans cell histiocytosis, mandibuloacral dysplasia, microcephalic osteodysplastic primordial dwarfism, Oculodentodigital dysplasia , osteogenesis imperfecta, osteopetrosis, juvenile Paget, polyostotic fibrous dysplasia, vitamin D-dependent rickets 1A, and vitamin D-dependent rickets 2A.
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Coffin-Lowry syndrome is expressed as different phenotypes in males and females.
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In the near vicinity to the associated region, RPS6KA3 was identified as a candidate gene causing facial dysmorphia in humans and mice known as Coffin-Lowry syndrome.
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Coffin-Lowry syndrome (CLS) is a rare X-linked disorder with variable clinical presentation, including growth retardation, facial and skeletal dysmorphic features, sudden drop episodes, epilepsy, and different degrees of intellectual disability.
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OBJECTIVE
To identify potential mutations of the CLS gene in a Chinese pedigree affected with Coffin-Lowry syndrome.
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An archived genetic test confirmed the presence of a mutation in RPS6KA3, supporting the diagnosis of Coffin-Lowry syndrome (CLS).
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