Further expanding the mutational spectrum and investigation of genotype–phenotype correlation in 3M syndrome-Reference-Cited by-同舟云学术

Further expanding the mutational spectrum and investigation of genotype–phenotype correlation in 3M syndrome

Published:2019-04-13 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:

Simsek‐Kiper Pelin Ozlem¹^ORCID,Taskiran Ekim²^ORCID,Kosukcu Can²³,Arslan Umut Ece⁴,Cormier‐Daire Valérie⁵,Gonc Nazlı⁶,Ozon Alev⁶,Alikasifoglu Ayfer⁶,Kandemir Nurgun⁶,Utine Gulen Eda¹,Alanay Yasemin¹⁷,Alikasifoglu Mehmet¹²,Boduroglu Koray¹²

Affiliation:

1. Department of Pediatric GeneticsHacettepe University Faculty of Medicine Ankara Turkey

2. Department of Medical GeneticsHacettepe University Faculty of Medicine Ankara Turkey

3. Department of BioinformaticsHacettepe University Institute of Health Sciences Ankara Turkey

4. Department of Health ResearchInstitute of Public Health, Hacettepe University Ankara Turkey

5. Department of GeneticsINSERM UMR 1163, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, AP‐HP, Hôpital Necker Enfants Malades Paris France

6. Department of Pediatric EndocrinologyHacettepe University Faculty of Medicine Ankara Turkey

7. Department of Pediatric GeneticsAcibadem University Faculty of Medicine Istanbul Turkey

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61154

Reference31 articles.

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2. Nosology and classification of genetic skeletal disorders: 2015 revision;Bonafe L.;American Journal of Medical Genetics Part A,2015

3. Exploring the spectrum of 3‐M syndrome, a primordial short stature disorder of disrupted ubiquitination;Clayton P. E.;Clinical Endocrinology,2012

4. 3‐M syndrome: A novel CUL7 mutation associated with respiratory distress and a good response to GH therapy;Deeb A.;Endocrinology, Diabetes & Metabolism Case Reports,2015

5. Familial dwarfism with disproportionately high vertebral bodies;Fuhrmann W.;Humangenetik,1971

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