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10 results
  1. Holoprosencephaly Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1530
    ... pregnancies of women with diabetes: National Birth Defects Prevention Study, 1997-2011. Am J ... in Smith-Lemli-Opitz Syndrome - first reported case and consideration of mechanism. Am ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Muenke syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  3. Apert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK541728
    ... improve quality of life for adults with Apert syndrome. Prevention of Secondary Complications Table 6. Prevention of Secondary Manifestations in Individuals with Apert Syndrome View in own window ... Papilledema / Cognitive impairment Timely surgical treatment ...
  4. Cytochrome P450 Oxidoreductase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1419
    ... the typical syndactyly. FGFR2 pathogenic variants are causative. Muenke syndrome is caused by FGFR3 pathogenic variant p.Pro250Arg. Muenke syndrome is characterized by uni-or bilateral synostosis of ...
  5. Achondroplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1152
    ... types I and II) FGFR -related craniosynostosis , including Muenke syndrome and Crouzon syndrome with acanthosis nigricans Isolated familial ... 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev. 2000; 21 :23– ...
  6. Permanent Neonatal Diabetes Mellitus - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1447
    ... is required in persons with exocrine pancreatic insufficiency. Prevention of Secondary Complications Aggressive treatment and frequent monitoring ... Han JC, Hahn JS, Blain D, Brooks B, Muenke M. Compound heterozygosity for mutations in PAX6 in ...
  7. Fibrodysplasia Ossificans Progressiva - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK558090
    ... Heterotopic ossification Targeted therapy (See Tables 6 & 7 .) Prevention of soft-tissue & muscle injury Avoid intramuscular injections. ... PMC free article : PMC7888549 ] [ PubMed : 28780023 ] Janoff HB, Muenke M, Johnson LO, Rosenberg A, Shore EM, Okereke ...