Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss‐of‐function variants-Reference-Cited by-同舟云学术

Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss‐of‐function variants

Published:2020-12-23 Issue:3 Volume:185 Page:889-893
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Gileta Alexander F.¹^ORCID,Helgeson Maria L.¹,Leonard Jacqueline M. M.²,Pyle Louise C.²³^ORCID,Subramanian Hari P.¹,Arndt Kelly¹,Hawkes Colin P.³⁴,del Gaudio Daniela¹

Affiliation:

1. Department of Human Genetics The University of Chicago Chicago Illinois USA

2. Division of Human Genetics and Roberts Individualized Medical Genetics Center The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

3. Perelman School of Medicine, University of Pennsylvania Philadelphia Pennsylvania USA

4. Division of Endocrinology and Diabetes The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62023

Reference30 articles.

1. Semaphorins and their Signaling Mechanisms

2. Genetics of Growth Disorders—Which Patients Require Genetic Testing?

3. A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants

4. Semaphorin III is needed for normal patterning and growth of nerves, bones and heart

5. Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

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