Otopalatodigital syndrome type 2 in a male infant: A case report with a novel sequence variation-Reference-Cited by-同舟云学术

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Otopalatodigital syndrome type 2 in a male infant: A case report with a novel sequence variation

Published:2015-07-27 Issue:01 Volume:02 Page:033-036
ISSN:2146-4596
Container-title:Journal of Pediatric Genetics
language:en
Short-container-title:J Pediatr Genet

Author:

Kurepa Dalibor¹,Shen Yiping²,Kakkilaya Venkatakrishna³,Ursin Sussone¹,Chen Harold¹,Sankararaman Senthilkumar¹

Affiliation:

1. Department of Pediatrics, Louisiana State University Health Sciences Center, Shreveport, LA, USA

2. Departments of Pathology and Laboratory Medicine, Harvard Medical School, Boston Children’s Hospital, Waltham, MA, USA

3. Division of Neonatology, Department of Pediatrics, University of South-Western Medical Center, Dallas, TX, USA

Publisher

IOS Press

Subject

Genetics(clinical),Pediatrics, Perinatology, and Child Health

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. A novel FLNA variant in a fetus with skeletal dysplasia;Human Genome Variation;2022-12-13

2. Microhomology-Mediated Nonhomologous End Joining Caused Rearrangement of EMD and FLNA in Emery-Dreifuss Muscular Dystrophy;Frontiers in Genetics;2021-12-17

3. FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature;BMC Medical Genetics;2018-09-06

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