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24 results
  1. Poland syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/poland-syndrome
    ... disruption may explain the range of signs and symptoms that occur in Poland syndrome. Abnormality of an embryonic structure called the apical ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... inheritance-pattern></inheritance-pattern-list><synonym-list ><synonym >Poland anomaly</synonym><synonym >Poland sequence</synonym><synonym >Poland syndactyly</ ...
  3. Genetic Conditions: P 
    https://medlineplus.gov/genetics/condition-p
    ... Pol III-related leukodystrophy Pol III-related leukodystrophy Poland anomaly, see Poland syndrome Poland sequence, see Poland syndrome Poland syndactyly, see Poland syndrome Poland syndrome Poland's anomaly, see Poland syndrome Poland's syndrome, see Poland syndrome ...
  4. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... title >Poland syndrome</title><other_names ><other_name >Poland anomaly</other_name><other_name >Poland sequence</other_name><other_name >Poland syndactyly</other_name><other_name >Poland's anomaly</other_name><other_name >Poland's syndrome</other_name>< ...
  5. STAC3 Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK542808
    ... obligatory. Variably present: Cranial nerve abnormalities Hearing loss Poland anomaly Limb reduction defects DD ASD AD = autosomal dominant ; ... Roca et al 2015 ]. Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
  6. Genetic Disorders 
    https://medlineplus.gov/geneticdisorders.html
    ... Progeria (Progeria Research Foundation, Inc.) - PDF Specifics About Poland Anomaly (National Human Genome Research Institute) About Progeria (National ... for Medical Education and Research) Triple X Syndrome: Symptoms and Causes (Mayo Foundation for Medical Education and ...
  7. List of Excluded Studies - Diagnosis of Celiac Disease - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK344449
    ... US); 2016 Jan. (Comparative Effectiveness Reviews, No. 162.) Diagnosis of Celiac Disease [Internet]. Show details Comparative Effectiveness ... PubMed : 24857202 ] 19. Bode S, Gudmand-Hoyer E. Symptoms and haematologic features in consecutive adult coeliac patients. ...
  8. Nijmegen Breakage Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1176
    ... common Eastern European pathogenic variant , c.657_661del5. Diagnosis/testing. The diagnosis of NBS is established in ... have been identified in an affected family member. Diagnosis Suggestive Findings Nijmegen breakage syndrome (NBS) should be ...
  9. PROP1-Related Combined Pituitary Hormone Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1347
    ... when present, usually occurs in adolescence or adulthood. Diagnosis/testing. Testing for deficient secretion of GH, TSH, ... paternal and maternal PROP1 pathogenic variants are known. Diagnosis Clinical Diagnosis The diagnosis of combined pituitary hormone ...
  10. Hand Injuries | Hand Disorders | MedlinePlus 
    https://medlineplus.gov/handinjuriesanddisorders.html
    ... Hall syndrome: MedlinePlus Genetics (National Library of Medicine) Poland syndrome: MedlinePlus Genetics (National Library of Medicine) RAPADILINO syndrome: ...
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