Familial PAX8 Small Deletion (c.989_992delACCC) Associated with Extreme Phenotype Variability-Reference-Cited by-同舟云学术

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Familial PAX8 Small Deletion (c.989_992delACCC) Associated with Extreme Phenotype Variability

Published:2004-11 Issue:11 Volume:89 Page:5669-5674
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:The Journal of Clinical Endocrinology & Metabolism

Author:

de Sanctis Luisa,Corrias Andrea,Romagnolo Damiano,DI Palma Tina,Biava Alessandra,Borgarello Gabriella,Gianino Paola,Silvestro Leandra,Zannini Mariastella,Dianzani Irma

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Cited by 61 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. Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities;Nature Genetics;2024-05

2. A case of syndromic congenital hypothyroidism with a 15.2 Mb interstitial deletion on 2q12.3q14.2 involving PAX8;CLIN PEDIATR ENDOCRI;2023

3. A case of syndromic congenital hypothyroidism with a 15.2 Mb interstitial deletion on 2q12.3q14.2 involving <i>PAX8</i>;Clinical Pediatric Endocrinology;2023

4. A patient with congenital hypothyroidism due to a PAX8 frameshift variant accompanying a urogenital malformation;CLIN PEDIATR ENDOCRI;2022

5. Functional analysis of PAX8 variants identified in patients with congenital hypothyroidism in situ;CLIN PEDIATR ENDOCRI;2022

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