Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.

doi:10.1002/ana.26127

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Article

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.

Annals of neurology - 1 Jul 2021

Schänzer Anne, Achleitner Melanie T, Trümbach Dietrich, Hubert Laurence, Munnich Arnold, Ahlemeyer Barbara, AlAbdulrahim Maha M, Greif Philipp A, Vosberg Sebastian, Hummer Blake, Feichtinger René G, Mayr Johannes A, Wortmann Saskia B, Aichner Heidi, Rudnik-Schöneborn Sabine, Ruiz Anna, Gabau Elisabeth, Sánchez Jacobo Pérez, Ellard Sian, Homfray Tessa, Stals Karen L, Wurst Wolfgang, Neubauer Bernd A, Acker Till, Bohlander Stefan K, Asensio Cédric, Besmond Claude, Alkuraya Fowzan S, AlSayed Moenaldeen D, Hahn Andreas, Weber Axel

Abstract excerpt

OBJECTIVE: Precursors of peptide hormones undergo posttranslational modifications within the trans-Golgi network (TGN). Dysfunction of proteins involved at different steps of this process cause several complex syndromes affecting the central nervous system (CNS). We aimed to clarify the genetic cause in a group of patients characterized by hypopituitarism in combination with brain atrophy, thin corpus callosum,...

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PMID: 33999436
DOI: 10.1002/ana.26127
PMCID: PMC8351430

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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