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Article

Endocrinological anomalies in a patient with 12q14 microdeletion syndrome. Completing phenotype of this exceptional short stature condition.

Journal of pediatric endocrinology & metabolism : JPEM - 1 May 2014

Nso-Roca Ana Pilar, Marco Francisco Carratalá, Ricote Jose Mestre, Ruiz Mercedes Juste

Abstract excerpt

12q14 microdeletion syndrome consists of the association of short stature, mental retardation, and osteopoikilosis. Since its first description in 2007, there have been <20 cases reported and each case presented variable phenotypes. We present a girl with 12q14 microdeletion that showed mental re...

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Identifiers

PMID: 24468604
DOI: 10.1515/jpem-2013-0239

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24468604-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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