@article{c91d36a5cb914c3baf649ab49bd30533,
title = "Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy",
abstract = "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 interruption syndrome (PSIS) is a congenital anomaly of the pituitary gland, diagnosed by characteristic MRI findings. We now describe four patients with TTC26 ciliopathy due to a homozygous c.695A>G p.Asn232Ser mutation and delineate PSIS as a novel clinical feature of this disorder, highlighting an important role of TTC26 in pituitary development.",
keywords = "Caroli disease, TTC26, cholestasis, ciliopathy, hypophysis, pituitary",
author = "Odeya David and Marina Eskin-Schwartz and Galina Ling and Vadim Dolgin and Eyal Kristal and Ela Benkowitz and Lidia Osyntsov and Libe Gradstein and Birk, {Ohad S.} and Neta Loewenthal and Baruch Yerushalmi",
note = "Funding Information: the Israel Science Foundation, Grant/Award Number: 2034/18; the Morris Kahn Family Foundation; the National Knowledge Center for Rare/Orphan Diseases of the Israel Ministry of Science, Technology and Space at Ben Gurion University Funding information Funding Information: The study was supported by the Morris Kahn Family Foundation, by the National Knowledge Center for Rare/Orphan Diseases of the Israel Ministry of Science, Technology and Space at Ben Gurion University, and by the Israel Science Foundation (grant no. 2034/18) awarded to Prof. O. S. B. Publisher Copyright: {\textcopyright} 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd",
year = "2020",
month = sep,
day = "1",
doi = "10.1111/cge.13805",
language = "English",
volume = "98",
pages = "303--307",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell Publishing Ltd",
number = "3",
}