PAPSS2 ‐related brachyolmia: Clinical and radiological phenotype in 18 new cases-Reference-Cited by-同舟云学术

PAPSS2 ‐related brachyolmia: Clinical and radiological phenotype in 18 new cases

Published:2019-07-16 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Bownass Lucy¹^ORCID,Abbs Stephen²,Armstrong Ruth³,Baujat Genevieve⁴,Behzadi Gry⁵,Berentsen Ragnhild Drage⁶,Burren Christine⁷^ORCID,Calder Alistair⁸,Cormier‐Daire Valérie⁴,Newbury‐Ecob Ruth¹,Foulds Nicola⁹,Juliusson Petur B.¹⁰¹¹¹²,Kant Sarina G.¹³,Lefroy Henrietta¹⁴,Mehta Sarju G.³,Merckoll Else¹⁵,Michot Caroline⁴,Monsell Fergal¹⁶,Offiah Amaka C.¹⁷,Richards Allan²,Rosendahl Karen¹⁸¹⁹,Rustad Cecilie F.²⁰^ORCID,Shears Deborah¹⁴,Tveten Kristian²¹,Wellesley Diana⁹,Wordsworth Paul²²,Smithson Sarah¹,

Affiliation:

1. Clinical Genetics, St Michael's Hospital BristolUniversity Hospitals Bristol NHS Foundation Trust Bristol UK

2. East Midlands and East of England NHS Genomic Laboratory HubCambridge University Hospitals NHS Foundation Trust Cambridge UK

3. East Anglian Medical Genetics Service, Addenbrooke's HospitalCambridge University Hospitals NHS Foundation Trust Cambridge UK

4. Département of GeneticsINSERM UMR1163, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, AP‐HP, Hôpital Necker Enfants Malades Paris France

5. Department of RadiologyStavanger University Hospital Stavanger Norway

6. Department of Medical GeneticsHaukeland University Hospital Bergen Norway

7. Department of Paediatric Endocrinology and DiabetesBristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust Bristol UK

8. Department of RadiologyGreat Ormond Street Hospital for Children NHS Foundation Trust London UK

9. Wessex Clinical Genetics, Princess Anne Hospital Southampton UK

10. Department of Health RegistriesNorwegian Institute of Public Health Bergen Norway

11. Department of Clinical ScienceUniversity of Bergen Bergen Norway

12. Department of PaediatricsHaukeland University Hospital Bergen Norway

13. Department of Clinical GeneticsLeiden University Medical Centre Leiden the Netherlands

14. Oxford Centre for Genomic MedicineOxford University Hospitals NHS Foundation Trust Oxford UK

15. Department of RadiologyOslo University Hospital Oslo Norway

16. Department of Paediatric OrthopaedicsBristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust Bristol UK

17. University of SheffieldAcademic Unit of Child Health, Sheffield Children's NHS Foundation Trust Sheffield UK

18. Section of Paediatric RadiologyHaukeland University Hospital Bergen Norway

19. Department of Clinical MedicineUniversity of Bergen Bergen Norway

20. Department of Medical GeneticsOslo University Hospital Oslo Norway

21. Department of Medical GeneticsTelemark Hospital Trust Skien Norway

22. Nuffield Orthopaedic Centre Oxford UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61282

Reference16 articles.

1. Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred;Ahmad M.;American Journal of Medical Genetics,1998

2. TW2 and TW3 bone ages: Time to change?;Ahmed M. L.;Archives of Disease in Childhood,2007

3. British 1990 growth reference centiles for weight, height, body mass index and head circumference fitted by maximum penalized likelihood;Cole T. J.;Statistics in Medicine,1998

4. Autosomal recessive brachyolmia: Early radiological findings;Handa A.;Skeltal Radiology,2016

5. Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations;Lida A.;Human Mutation,2013

Cited by 8 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. Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients;Heliyon;2024-01

2. A Missense Mutation (c.1037 G > C, p. R346P) in PAPSS2 Gene Results in Autosomal Recessive form of Brachyolmia Type 1 (Hobaek Form) in A Consanguineous Family;Genes;2022-11-11

3. Sulfation Pathways During Neurodevelopment;Frontiers in Molecular Biosciences;2022-04-14

5. Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families;Molecular Genetics & Genomic Medicine;2022-03-09