Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism

Clinical Endocrinology

Volumn 75, Issue 2, 2011, Pages 207-213

  Jin, Hye Young ^a   Lee, Beom Hee ^a,b   Choi, Jin Ho ^a   Kim, Gu Hwan ^b   Kim, Jin Kyung ^c   Lee, Jung Hyun ^d   Yu, Jeesuk ^e   Yoo, Jae Ho ^f   Ko, Cheol Woo ^g   Lim, Han Hyuk ^h   Chung, Hye Rim ⁱ   Yoo, Han Wook ^a,b  

^a University of Ulsan College of Medicine   (South Korea)

^b University of Ulsan   (South Korea)

^c Catholic University of Daegu   (South Korea)

^d Kosin University   (South Korea)

^e Dankook University   (South Korea)

^f Dong A University   (South Korea)

^g Kyungpook National University School of Medicine   (South Korea)

^h Chungnam National University   (South Korea)

ⁱ Seoul National University Bundang Hospital   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; AGE; ALBRIGHT SYNDROME; ARTICLE; BIOCHEMICAL COMPOSITION; CALCIFICATION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL STUDY; DIFFERENTIAL METHYLATED REGION; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; GNAS GENE; HETEROZYGOTE; HORMONE DETERMINATION; HUMAN; HYPOCALCEMIA; INFANT; MALE; METHYLATION; METHYLATION SPECIFIC MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MOLECULAR DYNAMICS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; PSEUDOPSEUDOHYPOPARATHYROIDISM; SCHOOL CHILD; SYMPTOM; TETANY;

EID: 79960170973     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2011.04026.x     Document Type: Article

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