Identification of STAC3 variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome-Reference-Cited by-同舟云学术

Identification of STAC3 variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome

Published:2017-08-04 Issue:10 Volume:173 Page:2763-2771
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Telegrafi Aida¹^ORCID,Webb Bryn D.²^ORCID,Robbins Sarah M.³,Speck‐Martins Carlos E.⁴,FitzPatrick David⁵,Fleming Leah³^ORCID,Redett Richard⁶,Dufke Andreas⁷⁸,Houge Gunnar⁹^ORCID,van Harssel Jeske J. T.¹⁰,Verloes Alain¹¹,Robles Angela¹²,Manoli Irini¹³,Engle Elizabeth C.¹⁴¹⁵¹⁶,Jabs Ethylin W.²,Valle David³,Carey John¹⁷,Hoover‐Fong Julie E.³¹⁸^ORCID,Sobreira Nara L. M.³,

Affiliation:

1. GeneDxGaithersburgMaryland

2. Department of Genetics and Genomic SciencesIcahn School of Medicine at Mount SinaiNew YorkNew York

3. McKusick‐Nathans Institute of Genetic MedicineJohns Hopkins University School of MedicineBaltimoreMaryland

4. Medical Genetic UnitSARAH Network of Rehabilitation HospitalsBrasilia‐DFBrazil

5. Human Genetics Unit, Medical and Developmental GeneticsUniversity of Edinburgh Western General HospitalEdinburghUnited Kingdom

6. Department of Plastic & Reconstructive SurgeryJohns Hopkins Hospital University School of MedicineBaltimoreMaryland

7. Institute of Medical Genetics and Applied GenomicsUniversity of TübingenTübingenGermany

8. Rare Disease CenterUniversity of TübingenTübingenGermany

9. Center for Medical Genetics and Molecular MedicineHaukeland University HospitalBergenNorway

10. Department of Clinical GeneticsUniversity Medical Center, University of UtrechtUtrechtThe Netherlands

11. Department of Genetics—Hospital Robert DEBREParisFrance

12. Dr. Angela Robles Pediatrics Private PracticeSan SebastianPuerto Rico

13. Medical Genomics and Metabolic Genetics Branch, National Human Genome Research InstituteNational Institutes of HealthBethesdaMaryland

14. Department of NeurologyBoston Children's Hospital and Harvard Medical SchoolBostonMassachusetts

15. Department of OphthalmologyBoston Children's Hospital and Harvard Medical SchoolBostonMassachusetts

16. Howard Hughes Medical InstitutionChevy ChaseMaryland

17. Department of PediatricsUniversity of UtahSalt Lake CityUtah

18. Greenberg Center for Skeletal DysplasiasJohns Hopkins University School of MedicineBaltimoreMaryland

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38375

Reference30 articles.

1. New case of the Carey-Fineman-Ziter syndrome

2. Stac3 Is Required for Myotube Formation and Myogenic Differentiation in Vertebrate Skeletal Muscle

3. The Carey-Fineman-Ziter syndrome: Follow-up of the original siblings and comments on pathogenesis

4. The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes

5. The SH3 and cysteine-rich domain 3 (Stac3) gene is important to growth, fiber composition, and calcium release from the sarcoplasmic reticulum in postnatal skeletal muscle

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