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Article

Completely skewed X-inactivation in a mentally retarded young female with pseudohypoparathyroidism type IB and juvenile renin-dependent hypertension.

The Journal of clinical endocrinology and metabolism - 1 Jul 2003

Demura Masashi, Takeda Yoshiyu, Yoneda Takashi, Furukawa Kenji, Tachi Aiko, Mabuchi Hiroshi

Abstract excerpt

Genetic analysis of the GNAS gene was performed in a patient with idiopathic renin-dependent hypertension, PTH resistance, and Albright's hereditary osteodystrophy-like characteristics such as a round face, short stature, obesity, and mental retardation (IQ, 49). Mutational analysis showed no mutations in exons 1-13 or in any exon-intron boundary. However, methylation-status analysis revealed a bialleic...

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Share to Chromogranins
Share to Dosage Compensation, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTP-Binding Protein alpha Subunits, Gs

Share to Heterotrimeric GTP-Binding Proteins

Share to Hypertension, Renal

Share to Pseudohypoparathyroidism

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Source

Identifiers

PMID: 12843141
DOI: 10.1210/jc.2002-021527

Genes

GNAS
PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Completely skewed X-inactivation in a mentally retarded young female with pseudohypoparathyroidism type IB and juvenile renin-dependent hypertension.PMID 12843141Read ↗

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