Familial DHCR7 genotype presenting as a very mild form of Smith‐Lemli‐Opitz syndrome and lethal holoprosencephaly-Reference-Cited by-同舟云学术

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Familial DHCR7 genotype presenting as a very mild form of Smith‐Lemli‐Opitz syndrome and lethal holoprosencephaly

Published:2020-08-09 Issue:1 Volume:56 Page:3-8
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Temple Suzanna E. L.¹^ORCID,Sachdev Rani¹,Ellaway Carolyn¹

Affiliation:

1. Centre for Clinical Genetics Sydney Children's Hospital Randwick New South Wales Australia

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12155

Reference22 articles.

1. Smith-Lemli-Opitz syndrome carrier frequency and estimates ofin uteromortality rates

2. Abnormal cholesterol metabolism in Smith‐Lemli‐Opitz syndrome;Elias ER;Curr Opin Pediatr,1995

3. Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts

4. Mutational spectrum of Smith-Lemli-Opitz syndrome

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Holoprosencephaly;Newborn;2024-03-26

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

3. Hypergonadism;Steroids in the Laboratory and Clinical Practice;2023

4. Evaluation of mutations in DHCR7 gene in high-risk pregnant women for Smith Lemli Opitz Syndrome during second-trimester screening in Nasiriyah;Al-Kufa University Journal for Biology;2022-06-14

5. Microcephaly in Neurometabolic Diseases;Children;2022-01-11

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