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Kleefstra syndrome
Sign in to saveAlso known as 9q34 deletion syndrome, 9q subtelomeric deletion syndrome, 9q-syndrome, chromosome 9q34.3 deletion syndrome, Chromosome 9q deletion syndrome, 9q34.3 microdeletion syndrome, 9Q- Syndrome
Human disease
Research
172 papers- Kleefstra Syndrome.1993
- Kleefstra Syndrome.Journal of the College of Physicians and Surgeons--Pakistan : JCPSP · 2022
- Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.American journal of human genetics · 2024
- Kleefstra syndrome: Impact on parents.Disability and health journal · 2021
- International clinical evidence-based guideline for Kleefstra syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2026
via PubMed
Wikidata facts
- Subclass of
- syndrome
- Official website
- www.kleefstrasyndrome.org
Show 5 more facts
- health specialty
- medical genetics
- exact match
- purl.obolibrary.org/obo/DOID_0080597
- NCI Thesaurus ID
- C129976
- genetic association
- EHMT1
- on focus list of Wikimedia project
- WikiProject Medicine
via Wikidata · CC0