Results 1 to 10 of about 1,253,968 (181)

HDR Syndrome Accompanying Type 1 Diabetes Mellitus and Hypopituitarism [PDF]

Case Reports in Endocrinology, 2019
HDR (Hypoparathyroidism, Deafness, and Renal Dysplasia) syndrome is an autosomal dominant disorder characterized by the triad of hypoparathyroidism, sensorineural deafness, and renal disease. Approximately 65% of patients with HDR syndrome have all three
Mustafa Can, Feridun Karakurt, Muhammed Kocabas, İlker Cordan, Melia Karakose, Mustafa Kulaksızoglu   +5 more
doaj   +7 more sources

HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report [PDF]

BMC Medical Genetics, 2017
Background Hypoparathyroidism, sensorineural hearing loss, and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare genetic disorder with high phenotypic heterogeneity caused by haploinsufficiency of the GATA3 gene on chromosome 10p14 ...
Aram Yang, Jinsup Kim, Chang-Seok Ki, Sung Hwa Hong, Sung Yoon Cho, Dong-Kyu Jin   +5 more
doaj   +3 more sources

A case of HDR syndrome with recurrent matured ovarian teratomas [PDF]

Endocrinology, Diabetes & Metabolism Case Reports
HDR syndrome is a rare, heterogeneous genetic disorder characterised by a triad of hypoparathyroidism, sensorineural deafness, and renal disease. The defect in most patients is caused by deletions in chromosome 10p14 or mutations in the GATA3 gene.
Ryizan Nizar, Louise Sarr, Tim Saunders, Waleed Elsayed, Arjun Joshi   +4 more
doaj   +4 more sources

A GATA3 gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review [PDF]

Frontiers in Genetics, 2023
Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an infrequent autosomal dominant genetic disorder caused by haploinsufficiency of the GATA binding protein 3 (GATA3) gene.
Yilun Tao, Lin Yang, Dong Han, Chen Zhao, Wenxia Song, Haiwei Wang, Xiaoze Li, Lihong Wang   +7 more
doaj   +2 more sources

A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family [PDF]

Endocrine Journal
HDR syndrome is an autosomal dominant disorder characterized by hypoparathyroidism (H), deafness (D), and renal dysplasia (R) caused by genetic variants of the GATA3 gene.
Yutaka Hasegawa, Toshie Segawa, Ai Chida, Eriko Yoshida, Hirofumi Kinno, Hiraku Chiba, Tomoyasu Oda, Yoshihiko Takahashi, Koji Nata, Yasushi Ishigaki   +9 more
doaj   +2 more sources

A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene [PDF]

Genetics and Molecular Biology, 2018
HDR syndrome is a rare autosomal dominant disorder caused by mutations in the GATA3 gene and characterized by hypoparathyroidism, sensorineural deafness and renal abnormalities.
Fábio Tadeu Arrojo Martins, Berenice Dias Ramos, Edi Lúcia Sartorato   +2 more
doaj   +2 more sources

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

Clinical Case Reports, 2020
Autosomal dominant hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome are typically diagnosed by manifestations of the three features with a positive family history.
Haruka Kishi, Teruo Jojima, Takahiko Kogai, Toshie Iijima, Eriko Ohira, Dai Tanuma, Sachiyo Konno, Kanako Kato, Atsumi Kezuka, Kazumi Akimoto, Junko Sakumoto, Akira Hishinuma, Takuya Tomaru, Noriko Makita, Isao Usui, Yoshimasa Aso   +15 more
doaj   +2 more sources

Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp [PDF]

Endocrinology, Diabetes & Metabolism Case Reports
HDR is a rare autosomal dominant genetic disorder characterized by the triad of hypoparathyroidism, sensorineural deafness and renal anomalies caused by haploinsufficiency loss of function of the GATA-binding protein 3 (GATA3) gene.
Luke Vroegindewey, John Kim, Dennis J Joseph   +2 more
doaj   +2 more sources

Mutational signatures in GATA3 transcription factor and its DNA binding domain that stimulate breast cancer and HDR syndrome [PDF]

Scientific Reports, 2021
Transcription factors (TFs) play important roles in many biochemical processes. Many human genetic disorders have been associated with mutations in the genes encoding these transcription factors, and so those mutations became targets for medications and ...
Atlal El-Assaad, Zaher Dawy, Athar Khalil, Georges Nemer   +3 more
doaj   +2 more sources

Establishment of the endocrine variant extractor and its clinical application in identifying a novel GATA3 mutation in HDR syndrome [PDF]

Frontiers in Endocrinology
BackgroundGenetic diagnosis of endocrine disorders is often hampered by the complexity of analyzing Whole Exome Sequencing (WES) data. We developed the endocrine variant extractor (EVE), a streamlined, clinician-friendly bioinformatics pipeline designed ...
Yunseo Han, Yunseo Han, Danbi Song, Minsoo Noh, Minsoo Noh, Mikyung Kang, Mikyung Kang, Young Sil Eom, Hunsang Lee, Hunsang Lee, Sihoon Lee, Sihoon Lee   +11 more
doaj   +2 more sources