Aldosterone synthase ( CYP11B2 ) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity-Reference-Cited by-同舟云学术

Aldosterone synthase ( CYP11B2 ) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity

Published:2021-01-13 Issue:4 Volume:185 Page:1033-1038
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Faingelernt Yaniv¹²,Hershkovitz Eli¹²^ORCID,Abu‐Libdeh Bassam³⁴,Abedrabbo Amal³,Abu‐Rmaileh Amro Sara³,Zarivach Raz⁵⁶,Zangen David⁷,Lavi Eran⁷,Haim Alon¹²,Parvari Ruti⁵⁸^ORCID,Abu‐Libdeh Abdulsalam³⁷

Affiliation:

1. Department of Pediatrics Soroka University Medical Center Beer‐Sheva Israel

2. Faculty of Health Sciences Ben‐Gurion University of the Negev Beer‐Sheva Israel

3. Department of Pediatrics Makassed Hospital & Al‐Quds Medical School East Jerusalem Palestine

4. Genetics Department Makassed Hospital & Al‐Quds Medical School East Jerusalem Palestine

5. The National Institute for Biotechnology in the Negev Ben‐Gurion University of the Negev Beer Sheva Israel

6. Department of Life Sciences Ben‐Gurion University of the Negev Beer‐Sheva Israel

7. Division of Pediatric Endocrinology Hadassah Hebrew University Medical Center Jerusalem Israel

8. Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences Ben‐Gurion University of the Negev Beer‐Sheva Israel

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62056

Reference15 articles.

1. A Novel Mutation of the CYP11B2 in a Saudi Infant with Primary Hypoaldosteronism

2. Autozygome Sequencing Expands the Horizon of Human Knockout Research and Provides Novel Insights into Human Phenotypic Variation

3. The Product of the CYP11B2 Gene Is Required for Aldosterone Biosynthesis in the Human Adrenal Cortex

4. Effects of genetic variation in the aldosterone synthase (CYP11B2) gene on enzyme function

5. The clinical significance of aldosterone synthase deficiency: report of a novel mutation in the CYP11B2 gene

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5. Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency;Journal of Clinical Research in Pediatric Endocrinology;2022-07-21