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Article

Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.

Clinical genetics - 1 Sept 2020

David Odeya, Eskin-Schwartz Marina, Ling Galina, Dolgin Vadim, Kristal Eyal, Benkowitz Ela, Osyntsov Lidia, Gradstein Libe, Birk Ohad S, Loewenthal Neta, Yerushalmi Baruch

Abstract excerpt

Ciliopathies are a heterogeneous group of disorders, related to abnormal ciliary function. Severe biliary ciliopathy, caused by bi-allelic mutations in TTC26, has been recently described in the context of a syndrome of polydactyly and severe neonatal cholestasis, with brain, kidney and heart involvement. Pituitary involvement has not been previously reported for patients with this condition. Pituitary stalk...

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Identifiers

PMID: 32617964
DOI: 10.1111/cge.13805

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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.

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