一种导致X连锁先天性肾上腺发育不全的NR0B1新变异体。 - Suppr

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A novel variant in NR0B1 causing X-linked adrenal hypoplasia congenita.

作者信息

Heo Seung, Shim Young Suk, Lee Hae Sang, Hwang Jin Soon

机构信息

Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea.

出版信息

Ann Pediatr Endocrinol Metab. 2024 Jun;29(3):204-206. doi: 10.6065/apem.2448176.088. Epub 2024 Jun 30.

DOI:10.6065/apem.2448176.088

PMID:38956756

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11220388/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/48e6/11220388/71557781c226/apem-2448176-088f1.jpg

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本文引用的文献

A Case of X-Linked Adrenal Hypoplasia Congenital (AHC) Due to Large Deletion of () and Contiguous Gene.

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Treatment of congenital hypogonadotropic hypogonadism in male patients.

Ann Pediatr Endocrinol Metab. 2022 Sep;27(3):176-182. doi: 10.6065/apem.2244208.104. Epub 2022 Sep 30.

Adrenal Hypoplasia Congenita-Hypogonadotropic Hypogonadism Syndrome Due to NR0B1 Gene Mutations.

Indian J Pediatr. 2022 Jun;89(6):587-590. doi: 10.1007/s12098-021-04055-2. Epub 2022 Mar 1.

Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita.

Ann Pediatr Endocrinol Metab. 2021 Jun;26(2):126-129. doi: 10.6065/apem.2040088.044. Epub 2021 Jun 30.

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Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.

J Clin Endocrinol Metab. 2006 Aug;91(8):3048-54. doi: 10.1210/jc.2006-0603. Epub 2006 May 9.

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