Further delineation of the GDF6 related multiple synostoses syndrome-Reference-Cited by-同舟云学术

Further delineation of the GDF6 related multiple synostoses syndrome

Published:2017-11-12 Issue:1 Volume:176 Page:225-229
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Terhal Paulien A.¹²^ORCID,Verbeek Nienke E.¹²,Knoers Nine¹²,Nievelstein Rutger J. A. J.³,van den Ouweland Ans⁴,Sakkers Ralph J.⁵,Speleman Lucienne⁶,van Haaften Gijs¹²

Affiliation:

1. Department of Genetics; University Medical Center Utrecht; Utrecht Netherlands

2. Center for Molecular Medicine; University Medical Center Utrecht; Utrecht Netherlands

3. Department of Radiology; University Medical Center Utrecht; Utrecht Netherlands

4. Department of Clinical Genetics; Erasmus Medical Center; Rotterdam Netherlands

5. Department of Orthopaedic Surgery; University Medical Center Utrecht; Utrecht Netherlands

6. Department of Otorhinolaryngology; University Medical Center Utrecht; Utrecht Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference20 articles.

1. Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes;Asai-Coakwell;Human Molecular Genetics,2009

2. Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis;Banka;Annal of the Rheumatic Diseases,2015

3. GDF5 is a second locus for multiple-synostosis syndrome;Dawson;American Journal of Human Genetics,2006

4. Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies;den Hollander;BMC Genetics,2010

5. Whole-genome sequence variation, population structure and demographic history of the Dutch population;Francioli;Nature Genetics,2014

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