Williams Syndrome
Introduction
Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvular aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, mental retardation (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty).
Some Recent Findings
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General Transcription Factor II-I Repeat Domain-containing Protein 1
GTF2IRD1 Links
- OMIM General Transcription Factor II-I Repeat Domain-containing Protein 1 (GTF2IRD1)
- Mapview GTF2IRD1
- Gene GTF2IRD1
References
- ↑ <pubmed>20007321</pubmed>| PMC2836076 | J Biol Chem
Reviews
<pubmed>21189808</pubmed>
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Special Issue: Williams Syndrome 15 May 2010
Articles
<pubmed>20425781</pubmed> <pubmed>20824207</pubmed>
Search PubMed
Search Pubmed: Williams Syndrome | GTF2IRD1
External Links
- PubMed Health Williams Syndrome
- OMIM General Transcription Factor II-I Repeat Domain-containing Protein 1 (GTF2IRD1)
Glossary Links
- Glossary: A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z | Numbers | Symbols | Term Link
Cite this page: Hill, M.A. (2024, June 16) Embryology Williams Syndrome. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Williams_Syndrome
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G