Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 15 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. 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
  7. 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
  8. 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
  9. Smith-Kingsmore syndrome 
    ... Martin B, Leary R, Mahan S, Liu S, Weaver M, Doerschner M, Jhangiani S, Muzny DM, Boerwinkle ...
    https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome - Genetics
  10. 16p11.2 deletion syndrome 
    ... Smith R, Lehman C, Mitchel MW, Singer K, Weaver WC, Chung W. 16p11.2 Recurrent Deletion. 2009 ...
    https://medlineplus.gov/genetics/condition/16p112-deletion-syndrome - Genetics
previous · 1 · 2 · next