Results 1 -
10
of
17
for
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 ...
- ... 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 ...
- Craniofacial Abnormalities (National Library of Medicine)Craniofacial is a medical term that relates to the bones of the skull and face. Craniofacial abnormalities are birth defects of the face or head. Some, like cleft ...
- Growth Disorders (National Library of Medicine)Does your child seem much shorter - or much taller - than other kids his or her age? It could be normal. Some children may be small for their age but still be ...
- ... ajmg.a.31456. Citation on PubMed Gripp KW, Weaver KN. HRAS-Related Costello Syndrome. 2006 Aug 29 [updated 2023 Dec 21]. In: ...
- ... 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( ...
- ... 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 ...
- ... 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. ...
- ... 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 ...
- ... 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 ...