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Article

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients.

The Journal of clinical endocrinology and metabolism - 1 Jun 2018

Kawashima Sayaka, Nakamura Akie, Inoue Takanobu, Matsubara Keiko, Horikawa Reiko, Wakui Keiko, Takano Kyoko, Fukushima Yoshimitsu, Tatematsu Toshi, Mizuno Seiji, Tsubaki Junko, Kure Shigeo, Matsubara Yoichi, Ogata Tsutomu, Fukami Maki, Kagami Masayo

Abstract excerpt

Context: Maternal uniparental disomy for chromosome 20 [UPD(20)mat], resulting in aberrant expression of imprinted transcripts at the GNAS locus, is a poorly characterized condition. These patients manifested a phenotype similar to that of Silver-Russell syndrome (SRS) and small for gestational age-short stature (SGA-SS); however, the etiological relationship between UPD(20)mat and SRS/SGA-SS remains unclear....

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Source

Identifiers

PMID: 29878129
DOI: 10.1210/jc.2017-02780

Genes

GNAS

Provenance

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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Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients.PMID 29878129Read ↗

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