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Article

Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: a new syndrome?

American journal of medical genetics. Part A - 1 Nov 2012

Lucci-Cordisco Emanuela, Scommegna Salvatore, Orteschi Daniela, Galeazzi Daniela, Neri Giovanni, Boscherini Brunetto

Abstract excerpt

Anterior pituitary aplasia (APA) is a very rare cause of congenital-onset multiple pituitary hormone deficiency (CO-MPHD). We report on molecular analysis and clinical follow-up of three previously reported cases of APA [Scommegna et al., 2004], who share a characteristic physical and neuropsycho...

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Source

Identifiers

PMID: 22987613
DOI: 10.1002/ajmg.a.35579

Genes

HESX1
LHX3
LHX4
PROP1
TEK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22987613-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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