Ear lobe creases: A novel phenotypic feature in <scp>KBG</scp> syndrome-Reference-Cited by-同舟云学术

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Ear lobe creases: A novel phenotypic feature in KBG syndrome

Published:2022-02-17 Issue:5 Volume:188 Page:1618-1622
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Ashraf Tazeen¹²^ORCID,Harrison Mike³,Irving Melita²

Affiliation:

1. Department of Clinical Genetics Great Ormond Street Hospital for Children NHS Foundation Trust London UK

2. Department of Clinical Genetics Guy's and St Thomas' NHS Foundation Trust London UK

3. Department of Paediatric Dentistry Guy's and St Thomas' NHS Foundation Trust London UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62675

Reference23 articles.

1. A novelde novoframeshift deletion inEHMT1in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation

2. KBG syndrome in a cohort of Italian patients

3. Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

4. Large-scale discovery of novel genetic causes of developmental disorders

5. Aural Sign of Coronary-Artery Disease

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Novel Variant ANKRD11 Gene Mutation Associated With Drug-Resistant Epilepsy in KBG Syndrome Phenotype;Pediatric Neurology;2024-06

2. Ocular manifestations in a cohort of 43 patients with KBG syndrome;American Journal of Medical Genetics Part A;2023-11-14

3. Ocular Manifestations in a Cohort of 43 Patients with KBG Syndrome;2023-06-01

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