Article

Role of Pediatric Nephrologist in Williams Syndrome: care from childhood to adulthood

2025-01-07

Abstract excerpt

<title>Abstract</title> <p>Williams syndrome is a relatively rare genetic disorder caused by the deletion of a segment of DNA on chromosome 7q11.23, which encodes the protein elastin. It is characterized by a distinctive clinical phenotype, with key features including cardiovascular abnormalities, facial features and intellectual disability, along with associated endocrine, urological and gastrointestinal manifes...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 84041bc5-fc84-5778-878c-cc0a6916d09c
DOI: 10.21203/rs.3.rs-5699451/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Role of Pediatric Nephrologist in Williams Syndrome: care from childhood to adulthoodDOI 10.21203/rs.3.rs-5699451/v1Read

Renal tract malformations: perspectives for nephrologists.Semantic proximity Read

A monocenter study on pediatric Alport syndrome featuring nephrotic syndrome as the primary manifestationSemantic proximity Read

Growth, body composition, and endocrine issues in Williams syndromeSemantic proximity Read

Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.Semantic proximity Read

[What's new in pediatric nephrology?].Semantic proximity Read

Congenital nephrotic syndrome.Semantic proximity Read

Renal malformations associated with mutations of developmental genes: messages from the clinic.Semantic proximity Read

Diagnostic and Management Challenges in Congenital Nephrotic SyndromeSemantic proximity Read

Risk Factors for Kidney Impairment in Pediatric Nephrolithiasis and Nephrocalcinosis: A Single-Center ExperienceSemantic proximity Read

Clinical phenotypes study of 231 children with Williams syndrome in China: A single-center retrospective study.Semantic proximity Read

Clinical follow-up of young adults affected by Williams syndrome: experience of 45 Italian patients.Semantic proximity Read

Neuraminidase1 Activity Contributes to Vasopressin Receptor-mediated Augmentation of Water and Electrolyte Retention by the Kidney in <i>Eln</i> Haploinsufficient MiceSemantic proximity Read