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18 results
  1. 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/ ...
  2. 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_ ...
  3. 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. [ ...
  4. 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 ...
  5. 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 ...
  6. 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 ...
  7. 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 ...
  8. FGFR Craniosynostosis Syndromes Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1455
    ... terminal transverse limb reduction, metacarpal hypoplasia, syndactyly EFNB1 Craniofrontonasal syndrome (OMIM 304110 ) XL Coronal Asymmetric frontal bossing, low ...
  9. Congenital Diaphragmatic Hernia Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1359
    ... stature, cleft palate, digital anomalies, & renal anomalies EFNB1 Craniofrontonasal syndrome (OMIM 304110 ) XL + Hypertelorism, broad or bifid nose, ...
  10. Greig Cephalopolysyndactyly Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1446
    ... Gene(s) Disorder MOI Clinical Features Comment EFNB1 Craniofrontonasal dysplasia (OMIM 304110 ) XL 1 In females: frontonasal dysplasia, ... the thoracic skeleton In males: widely spaced eyes Craniofrontonasal dysplasia facial features in females are similar to those ...
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