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Results 1 - 7 of 7 for "Martinez-Frias" syndrome
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  1. Opitz G/BBB syndrome 
    ... G syndrome Opitz G syndrome Opitz syndrome Opitz-Frias syndrome Genetic Testing Registry: Autosomal dominant Opitz G/BBB ...
    https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome - Genetics
  2. FKTN gene 
    ... Pena A, Rodriguez L, Fano O, Marco JJ, Martinez-Frias ML, Cruces J. Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. Clin Genet. 2008 Feb;73(2):139-45. ...
    https://medlineplus.gov/genetics/gene/fktn - Genetics
  3. Ellis-van Creveld syndrome 
    ... Eid SS, Cox H, Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship JA, ... Citation on PubMed
    https://medlineplus.gov/.../condition/ellis-van-creveld-syndrome - Genetics
  4. Weyers acrofacial dysostosis 
    ... in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. ... Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship ...
    https://medlineplus.gov/.../condition/weyers-acrofacial-dysostosis - Genetics
  5. EVC gene 
    ... mutations in two-thirds of Ellis-van Creveld syndrome patients. Hum Genet. 2007 ... Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship ...
    https://medlineplus.gov/genetics/gene/evc - Genetics
  6. EVC2 gene 
    ... mutations in two-thirds of Ellis-van Creveld syndrome patients. Hum Genet. 2007 ... Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship ...
    https://medlineplus.gov/genetics/gene/evc2 - Genetics
  7. Thanatophoric dysplasia 
    ... nlm.nih.gov/books/NBK1366/ Citation on PubMed Martinez-Frias ML, de ... and Crouzon syndrome with acanthosis nigricans. Endocr Rev. 2000 Feb;21( ...
    https://medlineplus.gov/genetics/condition/thanatophoric-dysplasia - Genetics