Craniosynostosis, ectopia lentis, and congenital heart defects: Further delineation of an autosomal dominant syndrome with incomplete penetrance
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference16 articles.
1. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
2. 1997. Craniofacial disorders. In: editor. Principles and practice of medical genetics. New York: Churchill Livingston. p 1121-1147.
3. Craniosynostosis associated with ectopia lentis in monozygotic twin sisters
4. Mutations of the TWIST gene in the Saethre-Chotzene syndrome
5. Identification of a genetic cause for isolated unilateral coronal synostosis: A unique mutation in the fibroblast growth factor receptor 3
Cited by 4 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. Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis;Case Reports in Genetics;2022-03-26
2. Ophthalmic Complications of Craniosynostosis and the Impact of Endoscopic Repair;Endoscopic Craniosynostosis Surgery;2022
3. Craniosynostosis with Ectopia Lentis and a Homozygous 20-base Deletion in ADAMTSL4;Ophthalmic Genetics;2012-08-07
4. Craniosynostosis and ectopia lentis in a propositus whose parents are cousins;American Journal of Medical Genetics Part A;2005-02-09
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