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Article

Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism.

The Journal of clinical endocrinology and metabolism - 1 Mar 2001

Bakker B, Bikker H, Hennekam R C, Lommen E J, Schipper M G, Vulsma T, de Vijlder J J

Abstract excerpt

Severe congenital hypothyroidism (CH) due to a total iodide organification defect (TIOD) is usually due to mutations in the thyroid peroxidase (TPO) gene located at chromosome 2p25. A homozygous deletion [DeltaT2512 (codon 808)] in exon 14 was identified in a patient with classical TIOD. The transmission pattern of the TPO gene in this family was anomalous; the mother was heterozygous for the deletion; and the...

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Share to Chromosomes, Human, Pair 2
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11238503
DOI: 10.1210/jcem.86.3.7313

Genes

TPO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism.PMID 11238503Read ↗

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A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism.Semantic proximity Read ↗

A truncating TPO mutation (Y55X) in patients with hypothyroidism and total iodide organification defect.Semantic proximity Read ↗

Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update).Semantic proximity Read ↗

Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.Semantic proximity Read ↗

Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with Congenital Hypothyroidism: Ruling Out Recessive Inheritance or a Kinship/Laboratory Sequencing Error.Semantic proximity Read ↗

Total iodide organification defect: clinical and molecular characterization of an Italian family.Semantic proximity Read ↗

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Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.Semantic proximity Read ↗

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