Identification ofKLHL40mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence-Reference-Cited by-同舟云学术

Identification ofKLHL40mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence

Published:2016-11-18 Issue:12 Volume:36 Page:1135-1138
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat Diagn

Author:

Chen Tai-Heng¹,Tian Xia²,Kuo Pao-Lin³,Pan Hui-Ping⁴,Wong Lee-Jun C.²⁵,Jong Yuh-Jyh⁶⁷⁸

Affiliation:

1. Division of Pediatric Emergency, Department of Emergency; Kaohsiung Medical University Hospital, Kaohsiung Medical University; Kaohsiung Taiwan

2. Baylor Genetics; Houston TX USA

3. Departments of Obstetrics and Gynecology; National Cheng Kung University Hospital; Tainan Taiwan

4. Center for Medical Genetics; National Cheng Kung University Hospital; Tainan Taiwan

5. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston TX USA

6. Departments of Pediatrics and Laboratory Medicine; Kaohsiung Medical University Hospital, Kaohsiung Medical University; Kaohsiung Taiwan

7. Graduate Institute of Clinical Medicine, College of Medicine; Kaohsiung Medical University; Kaohsiung Taiwan

8. Department of Biological Science and Technology, Institute of Molecular Medicine and Bioengineering, College of Biological Science and Technology; National Chiao Tung University; Hsinchu Taiwan

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/pd.4949/fullpdf

Reference15 articles.

1. Multiple congenital contractures: birth prevalence, etiology, and outcome;Darin;J Pediatr,2002

2. Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses;Witters;Am J Med Genet,2002

3. Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles;Hall;Eur J Med Genet,2014

4. Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS;Tian;Neurol Genet,2015

5. Fetal akinesia: review of the genetics of the neuromuscular causes;Ravenscroft;J Med Genet,2011

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