A rare cause of syndromic short stature: 3M syndrome in three families-Reference-Cited by-同舟云学术

A rare cause of syndromic short stature: 3M syndrome in three families

Published:2020-11-30 Issue:2 Volume:185 Page:461-468
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Isik Esra¹^ORCID,Arican Duygu²^ORCID,Atik Tahir¹^ORCID,Ooi Joo Enn³^ORCID,Darcan Sukran⁴^ORCID,Ozen Samim⁴^ORCID,Simsek Kiper Pelin Ozlem⁵^ORCID,Utine Eda⁵^ORCID,Cogulu Ozgur¹^ORCID,Ozkinay Ferda¹^ORCID

Affiliation:

1. Faculty of Medicine, Department of Pediatric Genetics Ege University Izmir Turkey

2. Faculty of Medicine, Department of Medical Genetics Ege University Izmir Turkey

3. University of Manchester, School of Medicine Manchester UK

4. Faculty of Medicine, Department of Pediatric Endocrinology Ege University Izmir Turkey

5. Department of Pediatric Genetics Hacettepe University Ankara Turkey

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61989

Reference20 articles.

1. Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination

2. Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

3. Severe short stature due to 3‐M syndrome with a novel OBSL1 gene mutation;Demir K.;Journal of Pediatric Endocrinology & Metabolism,2013

4. CUL7: A DOC domain-containing cullin selectively binds Skp1*Fbx29 to form an SCF-like complex

5. Updated growth curves for Turkish children aged 15 days to 60 months

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