Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome.

American journal of medical genetics. Part A - 1 Jan 2013

Matsuo Terumichi, Ihara Kenji, Ochiai Masayuki, Kinjo Tadamune, Yoshikawa Yoko, Kojima-Ishii Kanako, Noda Marie, Mizumoto Hiroshi, Misaki Maiko, Minagawa Kyoko, Tominaga Koji, Hara Toshiro

Abstract excerpt

Sotos syndrome (OMIM #117550) is a congenital syndrome characterized by overgrowth with advanced bone age, macrocephaly, and learning difficulties. Endocrine complications of this syndrome have not yet been fully described in previous reports. We here investigated the clinical manifestations of Sotos syndrome in Japanese patients who presented with hyperinsulinemic hypoglycemia of infancy. We recruited patients...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, Pair 5
Share to Congenital Hyperinsulinism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Histone-Lysine N-Methyltransferase

Share to Histone Methyltransferases

Share to Intensive Care Units, Neonatal

Share to Karyotype

Share to Learning Disabilities

Share to Trisomy

Source

Identifiers

PMID: 23239432
DOI: 10.1002/ajmg.a.35657

Genes

NSD1

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome.PMID 23239432Read ↗

Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan.Semantic proximity Read ↗

A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of Sotos syndrome.Semantic proximity Read ↗

Hyperinsulinemia in Sotos Syndrome with a de novo NSD1 DeletionSemantic proximity Read ↗

Syndromic forms of congenital hyperinsulinismSemantic proximity Read ↗

Case Report of Neonatal Sotos Syndrome with a New Missense Mutation in the NSD1 Gene and Literature Analysis in the Chinese Han Population.Semantic proximity Read ↗

Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and familiesSemantic proximity Read ↗

Congenital Hyperinsulinism.Semantic proximity Read ↗

Evaluation and management of neonatal onset hyperinsulinemic hypoglycemia: a single neonatal center experience.Semantic proximity Read ↗

First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.Semantic proximity Read ↗

Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature.Semantic proximity Read ↗

Neurodevelopment and Genetic Evaluation of Sotos Syndrome Cases with a Novel Mutation: a Single-Center Experience.Semantic proximity Read ↗

A clinical study of Sotos syndrome patients with review of the literature.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.