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Article

Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders.

The Journal of pediatrics - 1 Feb 2024

Rezende Raissa Carneiro, Menezes de Andrade Nathalia Liberatoscioli, Branco Dantas Naiara Castelo, de Polli Cellin Laurana, Victorino Krepischi Ana Cristina, Lerario Antonio Marcondes, de Lima Jorge Alexander Augusto

Abstract excerpt

OBJECTIVE: To evaluate the presence of multiple genetic diagnoses in syndromic growth disorders. STUDY DESIGN: We carried out a cross-sectional study to evaluate 115 patients with syndromic tall (n = 24) or short stature (n = 91) of unknown cause from a tertiary referral center for growth disorders. Exome sequencing was performed to assess germline single nucleotide, InDel, and copy number variants. All variants...

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Identifiers

PMID: 37995928
DOI: 10.1016/j.jpeds.2023.113841

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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