A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3 , p.W10Cfs40, lacks kidney malformation-Reference-Cited by-同舟云学术

A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3 , p.W10Cfs40, lacks kidney malformation

Published:2020-08-14 Issue:12 Volume:8 Page:2619-2624
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Kishi Haruka¹,Jojima Teruo¹^ORCID,Kogai Takahiko²,Iijima Toshie¹^ORCID,Ohira Eriko¹,Tanuma Dai¹,Konno Sachiyo³,Kato Kanako¹,Kezuka Atsumi¹,Akimoto Kazumi⁴,Sakumoto Junko²,Hishinuma Akira²,Tomaru Takuya¹,Makita Noriko⁵,Usui Isao¹,Aso Yoshimasa¹

Affiliation:

1. Department of Endocrinology and Metabolism Dokkyo Medical University Mibu, Tochigi Japan

2. Department of Infection Control and Clinical Laboratory Medicine Dokkyo Medical University Mibu Shimotsuga, Tochigi Japan

3. Center of Medical Ultrasonics Dokkyo Medical University Mibu Shimotsuga, Tochigi Japan

4. Division of Clinical Science Research Support Center Dokkyo Medical University Mibu Shimotsuga, Tochigi Japan

5. Department of Nephrology and Endocrinology The University of Tokyo Tokyo Japan

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.3186

Reference12 articles.

1. Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

2. GATA3 haplo-insufficiency causes human HDR syndrome

3. Barakat syndrome revisited

4. HDR syndrome: A novel “de novo” mutation in GATA3 gene

5. GATA3 abnormalities and the phenotypic spectrum of HDR syndrome

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1. HDR syndrome: Large cohort and systematic review;Clinical Genetics;2024-06-28

2. A novel frameshift variant of <i>GATA3</i> (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family;Endocrine Journal;2024

3. Clinical and molecular characteristics of two Italian kindreds with hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome;Journal of Endocrinological Investigation;2023-08-10