Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing-Reference-Cited by-同舟云学术

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Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing

Published:2014-03-01 Issue:2 Volume:34 Page:134-138
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Jeon Ga Won¹,Lee Mi-Na²,Jung Ji Mi¹,Hong Seong Yeon³,Kim Young Nam⁴,Sin Jong Beom¹,Ki Chang-Seok²

Affiliation:

1. Department of Pediatrics, Inje University College of Medicine, Busan Paik Hospital, Busan, Korea

2. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

3. Department of Obstetrics and Gynecology, Catholic University of Daegu, Daegu Catholic University Medical Center, Daegu, Korea

4. Department of Obstetrics and Gynecology, Inje University College of Medicine, Busan Paik Hospital, Busan, Korea

Funder

SMC-KIST Translational Research Program

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry (medical),Clinical Biochemistry,General Medicine

Link

https://synapse.koreamed.org/pdf/10.3343/alm.2014.34.2.134

Reference24 articles.

1. Atelosteogenesis

2. Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II

3. Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia

4. Mutations in two regions ofFLNBresult in atelosteogenesis I and III

Cited by 11 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. Disruption of FLNB leads to skeletal malformation by interfering with skeletal segmentation through the HOX gene;Bone Reports;2024-03

2. Whole-genome sequencing analysis in families with recurrent pregnancy loss: A pilot study;PLOS ONE;2023-02-17

3. Atelosteogenesis (AO);Genetic Syndromes;2023

4. Filamin B: The next hotspot in skeletal research?;Journal of Genetics and Genomics;2017-07

5. Atelosteogenesis;Atlas of Genetic Diagnosis and Counseling;2017

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