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13 results
  1. ... Trichorhinophalangeal dysplasia type I Trichorhinophalangeal dysplasia type II (Langer-Giedion syndrome) For synonyms and outdated names see Nomenclature . Diagnosis ...
  2. ... in EXT1 or EXT2 . Contiguous gene deletion syndromes. Langer-Giedion syndrome, involving deletion of EXT1 and TRPS1 (see Trichorhinophalangeal ... syndrome involving EXT1 , RAD21 , & TRPS1 Trichorhinophalangeal syndrome II (Langer-Giedion syndrome) AD ... craniofacial & digital anomalies PTPN11 Metachondromatosis ( ...
  3. ... is a rare finding in trichorhinophalangeal syndrome II (Langer-Giedion syndrome) [ Schinzel et al 2013 ]. Vaginal agenesis. Rarely, vaginal ... Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications. Am J Med Genet ...
  4. ... syndrome</synonym><synonym >Giedion-Langer syndrome</synonym><synonym >Langer-Giedion syndrome</synonym><synonym >LGS</synonym><synonym >Tricho-rhino-phalangeal ...
  5. ... name><other_name >LGS</other_name><other_name >Langer-Giedion syndrome</other_name><other_name >TRPS II</other_name>< ...
  6. ... Cortical, Congenital Hyperostosis Frontalis Interna Kashin-Beck Disease Langer-Giedion Syndrome Osteochondroma Osteochondromatosis Exostoses, Multiple Hereditary Osteogenesis Imperfecta Osteosclerosis ...
  7. ... Kashin-Beck Disease C05.116.099.708.582 Langer-Giedion Syndrome C05.116.099.708.670 Osteochondroma C05.116. ...
  8. ... Kashin-Beck Disease C05.116.099.708.582...........................................Langer-Giedion Syndrome C05.116.099.708.670...........................................Osteochondroma C05.116. ...
  9. NLM Digital Collections - The Gene Map of Homo sapiens: Status and Prospectus 
    Publication: Cold Spring Harbor Laboratory. Press, 1986
    ... syndromes such as the Prader-Willi syndrome, the Langer-Giedion syndrome, the Miller-Dieker lis- sencephaly syndrome, and the ... genes: the WAGR syn- drome (11p) and the Langer-Giedion syndrome (8q) are cases in point. Although the evidence ...
  10. ... Chromosome 8q24.1 deletion syndrome Giedion-Langer syndrome Langer-Giedion syndrome LGS Tricho-rhino-phalangeal syndrome type II Trichorhinophalangeal ...