A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation
© 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd..
Autosomal dominant hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome are typically diagnosed by manifestations of the three features with a positive family history. Our case carried a de novo variant in causative gene, GATA3, but presenting no renal dysplasia or family history. The phenotypic heterogeneity raises a caution for diagnosis.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2020 |
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| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:8 |
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| Enthalten in: |
Clinical case reports - 8(2020), 12 vom: 17. Dez., Seite 2619-2624 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Kishi, Haruka [VerfasserIn] |
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| Links: |
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| Themen: |
Case Reports |
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| Anmerkungen: |
Date Revised 30.03.2024 published: Electronic-eCollection Citation Status PubMed-not-MEDLINE |
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| doi: |
10.1002/ccr3.3186 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM319280950 |
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| 245 | 1 | 2 | |a A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation |
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| 520 | |a Autosomal dominant hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome are typically diagnosed by manifestations of the three features with a positive family history. Our case carried a de novo variant in causative gene, GATA3, but presenting no renal dysplasia or family history. The phenotypic heterogeneity raises a caution for diagnosis | ||
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| 700 | 1 | |a Jojima, Teruo |e verfasserin |4 aut | |
| 700 | 1 | |a Kogai, Takahiko |e verfasserin |4 aut | |
| 700 | 1 | |a Iijima, Toshie |e verfasserin |4 aut | |
| 700 | 1 | |a Ohira, Eriko |e verfasserin |4 aut | |
| 700 | 1 | |a Tanuma, Dai |e verfasserin |4 aut | |
| 700 | 1 | |a Konno, Sachiyo |e verfasserin |4 aut | |
| 700 | 1 | |a Kato, Kanako |e verfasserin |4 aut | |
| 700 | 1 | |a Kezuka, Atsumi |e verfasserin |4 aut | |
| 700 | 1 | |a Akimoto, Kazumi |e verfasserin |4 aut | |
| 700 | 1 | |a Sakumoto, Junko |e verfasserin |4 aut | |
| 700 | 1 | |a Hishinuma, Akira |e verfasserin |4 aut | |
| 700 | 1 | |a Tomaru, Takuya |e verfasserin |4 aut | |
| 700 | 1 | |a Makita, Noriko |e verfasserin |4 aut | |
| 700 | 1 | |a Usui, Isao |e verfasserin |4 aut | |
| 700 | 1 | |a Aso, Yoshimasa |e verfasserin |4 aut | |
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