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

The journal of applied laboratory medicine - 7 Sept 2023

Jain Ruchi, Rabea Fatima, Alfalasi Roudha, Elabiary Mohamed Wasfy, Abou Tayoun Ahmad

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Share to Chromosomes, Human, Pair 2
Share to Congenital Hypothyroidism
Share to Polymorphism, Single Nucleotide

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Uniparental Disomy

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PMID: 37478349
DOI: 10.1093/jalm/jfad039

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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