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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引用次数: 1
Abstract
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.
期刊介绍：
Clinical Case Reports is different from other case report journals. Our aim is to directly improve global health and increase clinical understanding using case reports to convey important best practice information. We welcome case reports from all areas of Medicine, Nursing, Dentistry, and Veterinary Science and may include: -Any clinical case or procedure which illustrates an important best practice teaching message -Any clinical case or procedure which illustrates the appropriate use of an important clinical guideline or systematic review. As well as: -The management of novel or very uncommon diseases -A common disease presenting in an uncommon way -An uncommon disease masquerading as something more common -Cases which expand understanding of disease pathogenesis -Cases where the teaching point is based on an error -Cases which allow us to re-think established medical lore -Unreported adverse effects of interventions (drug, procedural, or other).
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