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Article

Mild phenotype in two siblings with a missense GHR variant.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Oct 2021

Sarıkaya Özdemir Behiye, Çetinkaya Semra, Güleray Lafcı Naz, Şakar Merve, Karacan Küçükali Gülin, Elmaoğullari Selin, Savaş Erdeve Şenay

Abstract excerpt

OBJECTIVES: Laron syndrome (LS) is a disease caused by growth hormone receptor (GHR) defects. It is characterized by severe postnatal growth retardation and distinctive facial features. CASE PRESENTATION: In this case report, we describe the clinical and biochemical characteristics of two siblings with LS, a sister and a brother, and identify a homozygous c.344A> C (p.Asn115Thr) variant in GHR. The sister was 11...

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Adolescent
Carrier Proteins
Child
Mutation, Missense
Patient Acuity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptors, Somatotropin

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PMID: 34218547
DOI: 10.1515/jpem-2021-0044

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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