Patient with an autosomal‐recessive MBTPS1 ‐linked phenotype and clinical features of Silver–Russell syndrome-Reference-Cited by-同舟云学术

Patient with an autosomal‐recessive MBTPS1 ‐linked phenotype and clinical features of Silver–Russell syndrome

Published:2020-08-28 Issue:11 Volume:182 Page:2727-2730
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Meyer Robert¹,Elbracht Miriam¹^ORCID,Opladen Thomas²,Eggermann Thomas¹^ORCID

Affiliation:

1. Institute of Human Genetics, Medical Faculty, RWTH Aachen University Aachen Germany

2. University Childrens Hospital Heidelberg Division for Child Neurology and Metabolic Medicine Heidelberg Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61833

Reference9 articles.

1. The SREBP Pathway: Regulation of Cholesterol Metabolism by Proteolysis of a Membrane-Bound Transcription Factor

2. Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases

3. Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking

4. A Key Enzyme in the Biogenesis of Lysosomes Is a Protease That Regulates Cholesterol Metabolism

5. Targeted next generation sequencing approach in patients referred for Silver‐Russell syndrome testing increases the mutation detection rate and provides decisive information for clinical management;Meyer R.;The Journal of Pediatrics,2017

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