Identification of anIGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism-Reference-Cited by-同舟云学术

Identification of anIGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism

Published:2016-06-09 Issue:4 Volume:85 Page:609-615
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Hughes James N.¹²,Aubert Matthew¹,Heatlie Jessica¹,Gardner Alison³,Gecz Jozef²³,Morgan Thomas⁴,Belsky Joseph⁵⁶,Thomas Paul Q.¹²

Affiliation:

1. School of Biological Sciences; University of Adelaide; Adelaide SA Australia

2. Robinson Research Institute; University of Adelaide; Adelaide SA Australia

3. School of Pediatrics and Reproductive Health; The University of Adelaide; Adelaide SA Australia

4. Novartis Institutes of Biomedical Research; Biomarkers Division; Cambridge MA USA

5. Department of Medicine (Endocrinology); Yale University School of Medicine; New Haven CT USA

6. Department of Medicine; Danbury Hospital; Danbury CT USA

Funder

National Health and Medical Research Council

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cen.13094/fullpdf

Reference28 articles.

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2. A family with complete resistance to thyrotropin-releasing hormone;Bonomi;New England Journal of Medicine,2009

3. A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene;Collu;Journal of Clinical Endocrinology and Metabolism,1997

4. Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene;Dacou-Voutetakis;American Journal of Human Genetics,1990

5. Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance;Doeker;Journal of Clinical Endocrinology and Metabolism,1998

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2. Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years;eClinicalMedicine;2022-09

3. The extant immunoglobulin superfamily, member 1 gene results from an ancestral gene duplication in eutherian mammals;PLOS ONE;2022-06-02

4. Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying IGSF1 Mutations;Genes;2022-03-30

5. Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family;Hormone Research in Paediatrics;2022