ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.

doi:10.1093/brain/awt218

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Article

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.

Brain : a journal of neurology - 1 Oct 2013

Webb Emma A, AlMutair Angham, Kelberman Daniel, Bacchelli Chiara, Chanudet Estelle, Lescai Francesco, Andoniadou Cynthia L, Banyan Abdul, Alsawaid Al, Alrifai Muhammad T, Alahmesh Mohammed A, Balwi M, Mousavy-Gharavy Seyedeh N, Lukovic Biljana, Burke Derek, McCabe Mark J, Kasia Tessa, Kleta Robert, Stupka Elia, Beales Philip L, Thompson Dorothy A, Chong W Kling, Alkuraya Fowzan S, Martinez-Barbera Juan-Pedro, Sowden Jane C, Dattani Mehul T

Abstract excerpt

We describe a previously unreported syndrome characterized by secondary (post-natal) microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, seizures, severe visual impairment and abnormalities of the kidneys and urinary tract in a highly consanguineous family with six affected children. Homozygosity mapping and exome sequencing revealed a novel homozygous frameshift mutation in...

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Identifiers

PMID: 24022475
DOI: 10.1093/brain/awt218
PMCID: PMC3784281

Genes

ARNT2

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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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