Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities...
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distinguishable from autosomal traits. One example of an X-linked trait is Coffin–Lowry syndrome, which is caused by a mutation in ribosomal protein gene. This mutation...
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isolated syndrome CLOVES syndrome COACH syndrome Cobb syndrome Cockayne syndrome Coffin–Lowry syndrome Coffin–Siris syndrome Cogan syndrome Cohen syndrome Compartment...
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differentiation. Mutations in this gene have been associated with Coffin–Lowry syndrome (CLS). RPS6KA3 has been shown to interact with CREB-binding protein...
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List of genetic disorders (redirect from List of genetic syndromes)
RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya...
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but also in the hands and arms in the advanced stages of disease. Coffin–Lowry syndrome; severe intellectual disability sometimes associated with abnormalities...
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Craniosynostosis Coffin–Lowry syndrome Copenhagen disease Fibrodysplasia ossificans progressiva Fibrous dysplasia Fong disease (or Nail–patella syndrome) Fracture...
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needed] Alport syndrome Coffin–Lowry syndrome (CLS) Fragile X syndrome Idiopathic hypoparathyroidism Incontinentia pigmenti Rett syndrome (RS) Vitamin D...
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fatigue syndrome Chronic inflammatory demyelinating polyneuropathy Charles bonnet syndrome Chronic pain Cluster headache Cockayne syndrome Coffin–Lowry syndrome...
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disorders such as mannosidosis, myotonic dystrophy, Lowe syndrome, and Coffin–Lowry syndrome. Dilation is also a common characteristic of diseases or...
33 KB (3,935 words) - 06:47, 8 July 2024