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Results 1 - 10 of 17 for Weaver syndrome
  1. Weaver syndrome 
    Weaver syndrome is a condition that involves tall stature with or without a large head size (macrocephaly), a variable degree of intellectual disability (usually ...
    https://medlineplus.gov/genetics/condition/weaver-syndrome - Genetics
  2. EZH2 gene 
    ... gene mutations have been identified in people with Weaver syndrome, which involves tall stature, a variable degree of ... Most of the EZH2 gene mutations associated with Weaver syndrome change single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/ezh2 - Genetics
  3. Costello syndrome 
    ... ajmg.a.31456. Citation on PubMed Gripp KW, Weaver KN. HRAS-Related Costello Syndrome. 2006 Aug 29 [updated 2023 Dec 21]. In: ...
    https://medlineplus.gov/genetics/condition/costello-syndrome - Genetics
  4. Blepharocheilodontic syndrome 
    ... 23.3.co;2-1. Citation on PubMed Weaver KN, Rutledge KD, Grant JH, Robin NH. Imperforate anus is a rare associated finding in blepharocheilodontic syndrome. Am J Med Genet A. 2010 Feb;152A( ...
    https://medlineplus.gov/.../condition/blepharocheilodontic-syndrome - Genetics
  5. Hermansky-Pudlak syndrome 
    ... on PubMed Young LR, Gulleman PM, Bridges JP, Weaver TE, Deutsch GH, Blackwell TS, McCormack FX. The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome. Am J Respir Crit Care Med. 2012 Nov ...
    https://medlineplus.gov/genetics/condition/hermansky-pudlak-syndrome - Genetics
  6. YWHAE gene 
    ... J, Wied HM, Kline-Fath BM, Smolarek TA, Weaver KN, Hopkin RJ. Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome. Am J Med Genet A. 2023 Feb;191( ...
    https://medlineplus.gov/genetics/gene/ywhae - Genetics
  7. Chromosome 17 
    ... J, Wied HM, Kline-Fath BM, Smolarek TA, Weaver KN, Hopkin RJ. Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome. Am J Med Genet A. 2023 Feb;191( ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics
  8. PROK2 gene 
    ... Li C, Lee AG, Bermak JC, Belluzzi J, Weaver DR, Leslie FM, Zhou QY. Prokineticin 2 ... and Kallmann Syndrome. Front Endocrinol (Lausanne). 2013 Apr 12;4:19. ...
    https://medlineplus.gov/genetics/gene/prok2 - Genetics
  9. 1q21.1 microduplication 
    ... Disorders (NORD) ClinicalTrials.gov ... SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison ...
    https://medlineplus.gov/genetics/condition/1q211-microduplication - Genetics
  10. 1q21.1 microdeletion 
    ... Disorders (NORD) ClinicalTrials.gov ... Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison ...
    https://medlineplus.gov/genetics/condition/1q211-microdeletion - Genetics
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