A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32025/fullpdf
Reference26 articles.
1. A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications
2. Ring chromosome 22 karyotype in a patient with Opitz (BBBG) syndrome
3. Low-Copy Repeats Mediate the Common 3-Mb Deletion in Patients with Velo-cardio-facial Syndrome
Cited by 8 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. Update on 13 Syndromes Affecting Craniofacial and Dental Structures;Frontiers in Physiology;2017-12-14
2. Anaesthesia recommendations for patients suffering from Opitz G/BBB syndrome;ANASTH INTENSIVMED;2017
3. Craniosynostosis and radial ray defect: A rare presentation of 22q11.2 deletion syndrome;American Journal of Medical Genetics Part A;2013-06-27
4. Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS;Journal of Medical Genetics;2012-12-11
5. Otolaryngologic Manifestations of Craniofacial Syndromes;Otolaryngologic Clinics of North America;2012-06
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