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Article

Genotype-phenotype correlations in children with short stature: results of targeted next-generation sequencing.

Journal of pediatric endocrinology & metabolism : JPEM - 25 Sept 2026

Meral Rabia, Er Eren, Filibeli Berna Eroğlu, Kırbıyık Özgür, Güvenç Merve Saka, Dündar Bumin N

Abstract excerpt

OBJECTIVES: Short stature is a frequent reason for referral to pediatric endocrinology clinics, and its underlying cause often remains unclear. This study aimed to determine the diagnostic yield of targeted next-generation sequencing (NGS) and to evaluate genotype-phenotype correlations in children with short stature. METHODS: This retrospective observational study included 64 children (37 males, 27 females) with...

Read the complete abstract on PubMed

Topics

Humans
Female
Male
Child
Retrospective Studies
High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Genetic Association Studies

Child, Preschool

Body Height

Dwarfism

Growth Disorders

Prognosis

Follow-Up Studies

Adolescent

Phenotype

Source

Identifiers

PMID: 42446396
DOI: 10.1515/jpem-2026-0267

Genes

FLNB
OBSL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 19 Oct 2026.

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