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[Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities].

Duodecim; laaketieteellinen aikakauskirja - 1 Jan 2014

Arvio Maria, Philips Anju K, Ahvenainen Minna, Somer Mirja, Kalscheuer Vera, Järvelä Irma

Abstract excerpt

Normal function of the thyroid gland is the cornerstone of a child's mental development and physical growth. We describe a Finnish family, in which the diagnosis of three brothers became clear after investigations that lasted for more than 30 years. Two of the sons have already died. DNA analysis...

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PMID: 25582014

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25582014-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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