A Case of Congenital Hypopituitarism Associated With a 1p31 Microdeletion: A Possible Role for LEPR and JAK1-Reference-Cited by-同舟云学术

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A Case of Congenital Hypopituitarism Associated With a 1p31 Microdeletion: A Possible Role for LEPR and JAK1

Published:2017-02-28 Issue:4 Volume:1 Page:278-282
ISSN:2472-1972
Container-title:Journal of the Endocrine Society
language:en
Short-container-title:

Author:

Thakur Mili¹²,Taha Doris³,Misra Vinod K.¹

Affiliation:

1. Division of Genetic, Genomic, and Metabolic Disorders, Children’s Hospital of Michigan,

2. Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, and

3. Division of Endocrinology, Children’s Hospital of Michigan, Wayne State University School of Medicine, Detroit, Michigan 48201

Publisher

The Endocrine Society

Subject

Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jes/article-pdf/1/4/278/11021259/js.2016-1072.pdf

Reference17 articles.

1. Genetic regulation of pituitary gland development in human and mouse;Kelberman;Endocr Rev,2009

2. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants;Kearney;Genet Med,2011

3. Genetic screening of combined pituitary hormone deficiency: experience in 195 patients;Reynaud;J Clin Endocrinol Metab,2006

4. Interstitial microdeletion of chromosome 1p in two siblings;Campbell;Am J Med Genet,2002

5. A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum;Koehler;Eur J Pediatr,2010

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. Chromosomal 1p Duplication in a Pediatric Patient: A Case Report;Cureus;2024-07-19

2. Copy number variation in pituitary stalk interruption syndrome: A large case series of sporadic non‐syndromic patients and literature review;Journal of Neuroendocrinology;2022-12-10

3. Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles;Italian Journal of Pediatrics;2022-03-04

4. Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum;Genes;2021-07-25

5. Chromosome 1p31.1 Deletion Syndrome: Limited Expression;Annals of Indian Academy of Neurology;2021

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