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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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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