Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature-Reference-Cited by-同舟云学术

Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature

Published:2022-08-16 Issue:11 Volume:188 Page:3312-3317
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Ron Hayley A.¹^ORCID,Scobell Rebecca²³,Strong Amy²,Salazar Elizabeth G.⁴,Ganetzky Rebecca¹³^ORCID

Affiliation:

1. Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

2. Division of Nephrology The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

3. Department of Pediatrics, The Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA

4. Division of Neonatalogy 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.62956

Reference18 articles.

1. A method and server for predicting damaging missense mutations

2. Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy

3. A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation

4. Sphingosine 1-Phosphate Lyase Deficiency Disrupts Lipid Homeostasis in Liver

5. Sphingosine-1-phosphate lyase expression in embryonic and adult murine tissues

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