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  1. Coffin-Siris Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK131811
    ... Search term GeneReviews Advanced Search Help < Prev Next > Coffin-Siris Syndrome Synonym: Fifth Digit Syndrome Samantha Schrier Vergano , MD, ... organizations. For information on selection criteria, click here . Coffin-Siris Syndrome Foundation 11611 106th Avenue NE Kirkland WA 98034 ...
  2. Coffin-Siris syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/coffin-siris-syndrome
    ... syndrome. Learn more about the genes associated with Coffin-Siris syndrome ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1 SOX11 Additional Information ...
  3. ARID1B gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/arid1b
    ... be remodeled. Health Conditions Related to Genetic Changes Coffin-Siris syndrome More than 150 variants (also known as mutations) ... the ARID1B gene have been found to cause Coffin-Siris syndrome. This condition is characterized by delayed development, abnormalities ...
  4. SOX11 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/sox11
    ... SNF complexes. Health Conditions Related to Genetic Changes Coffin-Siris syndrome At least 14 variants (also known as mutations) ... the SOX11 gene have been found to cause Coffin-Siris syndrome. This condition is characterized by intellectual disability, abnormalities ...
  5. SMARCB1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/smarcb1
    ... fully understood. Health Conditions Related to Genetic Changes Coffin-Siris syndrome At least 11 variants (also known as mutations) ... the SMARCB1 gene have been found to cause Coffin-Siris syndrome. This condition is characterized by delayed development, abnormalities ...
  6. ARID1A gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/arid1a
    ... be remodeled. Health Conditions Related to Genetic Changes Coffin-Siris syndrome More than 30 variants (also known as mutations) in the ARID1A gene can cause Coffin-Siris syndrome. This condition is characterized by delayed development, abnormalities ...
  7. SMARCA4 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/smarca4
    ... uncontrolled way. Health Conditions Related to Genetic Changes Coffin-Siris syndrome Approximately 40 variants (also known as mutations) in the SMARCA4 gene have been found to cause Coffin-Siris syndrome. This condition is characterized by delayed development, abnormalities ...
  8. SMARCE1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/smarce1
    ... completely understood. Health Conditions Related to Genetic Changes Coffin-Siris syndrome At least five variants (also known as mutations) in the SMARCE1 gene cause Coffin-Siris syndrome, which is characterized by delayed development, abnormalities of ...
  9. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Coffin-Siris syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  10. Nicolaides-Baraitser Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK321516
    ... ARID1B pathogenic variant and were reclassified as having Coffin-Siris syndrome (see Differential Diagnosis ). Clinical Characteristics Clinical Description The ...
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