Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management-Reference-Cited by-同舟云学术

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Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management

Published:2019-07-18 Issue:3 Volume:181 Page:327-336
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am J Med Genet

Author:

Filges Isabel¹^ORCID,Tercanli Sevgi²,Hall Judith G.³^ORCID

Affiliation:

1. Medical Genetics, Institute of Medical Genetics and PathologyUniversity Hospital and University of Basel Basel Switzerland

2. Center for Prenatal Ultrasound, Basel and University of Basel Basel Switzerland

3. Department of Medical Genetics and PediatricsUniversity of British Columbia and BC Children's Hospital Vancouver British Columbia Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31723

Reference80 articles.

1. Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis

2. Pena-Shokeir syndrome: current management strategies and palliative care

3. Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus

4. Ultrasound diagnosis of the pena shokeir phenotype at 14 weeks of pregnancy

5. Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum

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1. Éléments de données communs pour l'arthrogrypose multiple congénitale: Un cadre international;Developmental Medicine & Child Neurology;2024-04-09

2. Elementos de datos comunes para la artrogriposis múltiple congénita: Un marco internacional;Developmental Medicine & Child Neurology;2024-04-06

3. Myasthenia gravis – Genderaspekte und Familienplanung;Der Nervenarzt;2024-03-18

4. Common data elements for arthrogryposis multiplex congenita: An international framework;Developmental Medicine & Child Neurology;2024-03-16

5. Pregnancy in myasthenia gravis: a retrospective analysis of maternal and neonatal outcome from a large tertiary care centre in Germany;Archives of Gynecology and Obstetrics;2024-03-16

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