Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

Journal of Clinical Endocrinology and Metabolism

Volumn 92, Issue 6, 2007, Pages 2370-2373

  De Nanclares, Guiomar Pérez ^a   Fernández Rebollo, Eduardo ^a   Santin, Izortze ^a   García Cuartero, Beatriz ^b   Gaztambide, Sonia ^a   Menéndez, Edelmiro ^d   Morales, Maria Jose ^e   Pombo, Manuel ^f   Bilbao, José Ramón ^c   Barros, Francisco ^g   Zazo, Nuria ^a   Ahrens, Wiebke ^h   Jüppner, Harald ⁱ   Hiort, Olaf ^h   Castaño, Luis ^a,c   Bastepe, Murat ⁱ  

^a HOSPITAL DE CRUCES   (Spain)

^b HOSPITAL SEVERO OCHOA   (Spain)

^c UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

^d Instituto de Investigación Sanitaria de Navarra   (Spain)

^e HOSPITAL DO MEIXOEIRO   (Spain)

^f UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^g Instituto de Investigación Sanitaria de Santiago de Compostela IDIS   (Spain)

^h UNIVERSITY OF LÜBECK   (Germany)

ⁱ MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALBRIGHT SYNDROME; ARTICLE; CASE REPORT; EPIGENETICS; ERYTHROCYTE; EXON; FEMALE; GENE ACTIVITY; GENE DELETION; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; HAPLOTYPE; HUMAN; INFANT; METHYLATION; POINT MUTATION; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; THYROID HORMONE RESISTANCE; UNIPARENTAL DISOMY;

EID: 34347217115     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2006-2287     Document Type: Article

References (20)

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