First case of desmosterolosis diagnosed by prenatal whole exome sequencing-Reference-Cited by-同舟云学术

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First case of desmosterolosis diagnosed by prenatal whole exome sequencing

Published:2022-12-20 Issue:3 Volume:191 Page:859-863
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:

Hill Chloe¹^ORCID,Noureldein Mona¹,Karkhanis Pallavi²,Kinning Esther³,Vijay Suresh⁴,Gowda Harsha¹

Affiliation:

1. Neonatal Unit, Heartlands Hospital University Hospitals Birmingham Birmingham UK

2. Fetal Medicine, Heartlands Hospital University Hospitals Birmingham Birmingham UK

3. Clinical Genetics Birmingham Women's and Children's Birmingham UK

4. Paediatric Inherited Metabolic Disease Birmingham Women's and Children's Birmingham UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63083

Reference10 articles.

1. Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay

2. Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders

3. Clinical phenotype of desmosterolosis

4. Sterol metabolism disorders and neurodevelopment-an update

5. INBORN ERRORS OF STEROL BIOSYNTHESIS

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4. Diagnosis of inborn errors of metabolism through prenatal exome sequencing with targeted analysis for fetal structural anomalies;Prenatal Diagnosis;2023-12-08

5. Molecular Dynamics Simulation Study on the Mechanism of the inhibitory of N,N-dimethyl-3β- hydroxycholenamide (DMHCA) on 3β-hydroxysterol-Δ24-reductase(DHCR24);2023-11-22

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