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21 results
  1. Craniofrontonasal syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/craniofrontonasal-syndrome
    ... syndrome. Learn more about the gene associated with Craniofrontonasal syndrome EFNB1 Inheritance Craniofrontonasal syndrome is inherited in an ...
  2. EFNB1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/efnb1
    ... synaptic plasticity). Health Conditions Related to Genetic Changes Craniofrontonasal syndrome More than 115 mutations in the EFNB1 gene have been found to cause craniofrontonasal syndrome. This rare condition is characterized by the premature ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Craniofrontonasal syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  4. Genetic Conditions: C 
    https://medlineplus.gov/genetics/condition-c
    ... extraocular muscles CFM, see Craniofacial microsomia CFND, see Craniofrontonasal syndrome CFNS, see Craniofrontonasal syndrome CFSMR, see Cerebro-facio- ...
  5. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/craniofrontonasal-syndrome</url><title >Craniofrontonasal syndrome</title><other_names ><other_ ...
  6. FREM1 Autosomal Recessive Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1728
    ... EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Nat Acad Sci. 2004; 101 :8652–7. [ ... P. Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Am J Hum Genet. 2004; 74 :1209–15. [ ...
  7. Fryns Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1459
    ... tumors distinguish SGBS1 from Fryns syndrome. 3 EFNB1 Craniofrontonasal syndrome (CFNS) (OMIM 304110 ) XL Rare (can occur in ...
  8. Craniofacial Abnormalities 
    https://medlineplus.gov/craniofacialabnormalities.html
    Craniofacial abnormalities (or craniofacial anomalies) are birth defects of the face or head. A common example is cleft lip and palate. Read more. ... Craniofacial is ...
  9. HYAL2 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK594824
    ... auditory issues Characteristic facial features Skeletal abnormalities EFNB1 Craniofrontonasal syndrome (OMIM 304110 ) XL Hypertelorism, nasal anomalies, orofacial clefts ...
  10. Donnai-Barrow Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1878
    ... nephrocalcinosis, & nephrolithiasis Rickets Congenital or acquired cataracts, & glaucoma Craniofrontonasal syndrome (OMIM 304110 ) EFNB1 XL Congenital diaphragmatic hernia Widely ...
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