Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotype-Reference-Cited by-同舟云学术

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Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotype

Published:2000-07 Issue:3 Volume:9 Page:177-182
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:Clinical Dysmorphology

Author:

Sweeney Elizabeth,Fryer Alan,Walters Mallt

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Cited by 14 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. KCTD1 and Scalp-Ear-Nipple (‘Finlay–Marks’) syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV α3 and α4 chains;Ophthalmic Genetics;2022-12-29

2. Char Syndrome a novel mutation and new insights: A clinical report;European Journal of Medical Genetics;2019-12

3. A novel missense mutation inTFAP2Bassociated with Char syndrome and central diabetes insipidus;American Journal of Medical Genetics Part A;2019-04-22

4. Genetic Abnormalities of the Anterior Segment, Eyelids, and External Ocular Adnexa;Ophthalmic Genetic Diseases;2019

5. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association;Circulation;2018-11-20

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