De novo STX16 deletions: An infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 12, 2012, Pages

  Turan, Serap ^a,i   Ignatius, Jaakko ^b   Moilanen, Jukka S ^c   Kuismin, Outi ^c   Stewart, Helen ^d   Mann, Nicholas P ^e   Linglart, Agnès ^f,g,h   Bastepe, Murat ^a   Jüppner, Harald ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

^b TURKU UNIVERSITY HOSPITAL   (Finland)

^c OULU UNIVERSITY HOSPITAL   (Finland)

^d OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^e ROYAL BERKSHIRE HOSPITAL   (United Kingdom)

^f BICÊTRE HOSPITAL   (France)

^g INSERM   (France)

^h UNIVERSITÉ PARIS SACLAY   (France)

ⁱ MARMARA UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PARATHYROID HORMONE;

ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; DNA DETERMINATION; DNA METHYLATION; EXON; EXTRACHROMOSOMAL INHERITANCE; FAMILY HISTORY; GENE; GENE DELETION; GENE LOCATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOME SIZE; GNAS GENE; HAPLOTYPE; HUMAN; HYPERPHOSPHATEMIA; HYPOCALCEMIA; MALE; MICROSATELLITE MARKER; MOLECULAR PATHOLOGY; MOTHER; PARATHYROID HORMONE BLOOD LEVEL; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; PSEUDOHYPOPARATHYROIDISM TYPE 1B; SCHOOL CHILD; SIBLING; STX16 GENE; TERTIARY HEALTH CARE;

CHILD; FAMILY; GENE DELETION; GENE FREQUENCY; HUMANS; INHERITANCE PATTERNS; MALE; PEDIGREE; PSEUDOHYPOPARATHYROIDISM; SYNTAXIN 16;

EID: 84870751340     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-2920     Document Type: Article

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