TGDS pathogenic variants cause Catel‐Manzke syndrome without hyperphalangy-Reference-Cited by-同舟云学术

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TGDS pathogenic variants cause Catel‐Manzke syndrome without hyperphalangy

Published:2019-11-25 Issue:3 Volume:182 Page:431-436
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Boschann Felix¹^ORCID,Stuurman Kyra E.²,Bruin Christiaan³,Slegtenhorst Marjon²,Duyvenvoorde Hermine A.⁴,Kant Sarina G.²⁴,Ehmke Nadja¹^ORCID

Affiliation:

1. Institute of Medical Genetics and Human GeneticsCharité—Universitätsmedizin Berlin Berlin Germany

2. Department of Clinical GeneticsErasmus MC, University Medical Center Rotterdam Rotterdam The Netherlands

3. Department of Pediatric EndocrinologyLeiden University Medical Center Leiden The Netherlands

4. Department of Clinical GeneticsLeiden University Medical Center Leiden The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61419

Reference16 articles.

1. Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome

2. Clinical and genetic heterogeneity in Desbuquois dysplasia

3. Identification of CANT1 Mutations in Desbuquois Dysplasia

4. The Catel‐Manzke syndrome in a female infant;Kant S. G.;Genetic Counseling,1998

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