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9 results
  1. Craniofrontonasal syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/craniofrontonasal-syndrome
    ... gov Catalog of Genes and Diseases from OMIM CRANIOFRONTONASAL SYNDROME; CFNS Scientific Articles on PubMed PubMed References Howaldt A, Nampoothiri S, Yesodharan D, Udayakumaran S, Subash P, ...
  2. EFNB1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/efnb1
    ... EFNB1 Gene and Variant Databases NCBI Gene ClinVar References Niethamer TK, Larson AR, O'Neill AK, Bershteyn M, Hsiao EC, Klein OD, Pomerantz JH, Bush JO. EPHRIN-B1 Mosaicism Drives Cell Segregation in Craniofrontonasal Syndrome hiPSC-Derived Neuroepithelial Cells. Stem Cell Reports. 2017 ...
  3. 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_ ...
  4. 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 ...
  5. Craniofacial Anomalies | Craniofacial Abnormalities | MedlinePlus 
    https://medlineplus.gov/craniofacialabnormalities.html
    ... Craniofacial microsomia: MedlinePlus Genetics (National Library of Medicine) Craniofrontonasal syndrome: MedlinePlus Genetics (National Library of Medicine) Craniometaphyseal dysplasia: ...
  6. 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 ...