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Article

Screening for mutations in the ISL1 gene in patients with thyroid dysgenesis.

Journal of endocrinological investigation - 1 Jan 2000

Ferrara A M, Rossi G, Zampella E, Di Candia S, Pagliara V, Nettore I C, Capalbo D, De Sanctis L, Baserga M, Salerno M C, Fenzi G, Macchia P E

Abstract excerpt

CONTEXT: Congenital hypothyroidism (CH) is a common endocrine disorder with an incidence of 1:3000- 4000 newborns. In 80-85% of cases, CH is caused by defects in thyroid organogenesis, resulting in absent, ectopically located, and/or severely reduced gland, all conditions indicated as "thyroid dy...

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Share to DNA Mutational Analysis
Share to Genetic Predisposition to Disease
Share to LIM-Homeodomain Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 21060249
DOI: 10.3275/7331

Genes

ISL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21060249-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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