Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS

Journal of Clinical Investigation

Volumn 112, Issue 8, 2003, Pages 1255-1263

  Bastepe, Murat ^a   Fröhlich, Leopold F ^a   Hendy, Geoffrey N ^b   Indridason, Olafur S ^c   Josse, Robert G ^d   Koshiyama, Hiroyuki ^e,f   Körkkö, Jarmo ^g   Nakamoto, Jon M ^h,m   Rosenbloom, Arlan L ⁱ   Slyper, Arnold H ^j   Sugimoto, Toshitsugu ^k   Tsatsoulis, Agathocles ^l   Crawford, John D ^a   Jüppner, Harald ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b ROYAL VICTORIA HOSPITAL   (Canada)

^c LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

^d ST MICHAEL'S HOSPITAL   (Canada)

^e Kitano Hospital   (Japan)

^f KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^g OULU UNIVERSITY HOSPITAL   (Finland)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^j MEDICAL COLLEGE OF WISCONSIN   (United States)

^k KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^l UNIVERSITY OF IOANNINA   (Greece)

^m QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CIS ACTING ELEMENT; GENE PRODUCT; GUANINE NUCLEOTIDE BINDING PROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; PARATHYROID HORMONE; PROTEIN GNAS; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALBRIGHT SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CENTROMERE; CHROMOSOME 20Q; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE CARRIER; DNA METHYLATION; EPIGENETICS; EXON; GENE CONTROL; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC CODE; HETEROZYGOSITY; HORMONE RESISTANCE; HUMAN; HYPERPHOSPHATEMIA; HYPOCALCEMIA; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; PSEUDOHYPOPARATHYROIDISM IB; SCHOOL CHILD;

EID: 9144266313     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI19159     Document Type: Article

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