Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib)

Bone

Volumn 48, Issue 3, 2011, Pages 659-662

  Bastepe, Murat ^a   Altug Teber, Özge ^b   Agarwal, Chhavi ^c   Oberfield, Sharon E ^c   Bonin, Michael ^b   Jüppner, Harald ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^c New York Presbyterian Morgan Stanley Children's Hospital   (United States)

Author keywords

GNAS; Imprinting; Parathyroid hormone; Pseudohypoparathyroidism; Stimulatory G protein

Indexed keywords

ALBUMIN; ALKALINE PHOSPHATASE; CALCITRIOL; CALCIUM; CALCIUM CARBONATE; CREATININE; PARATHYROID HORMONE; PHOSPHORUS; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN; SYNTAXIN 16; THYROTROPIN; VITAMIN D;

ALBRIGHT SYNDROME; ARTICLE; BODY MASS; CALCIUM BLOOD LEVEL; CASE REPORT; CHILD; CHROMOSOME 20; CONTROLLED STUDY; DIET SUPPLEMENTATION; DISEASE COURSE; FEMALE; GENE LOCUS; GENOME IMPRINTING; HUMAN; HYPERPHOSPHATEMIA; HYPOCALCEMIA; LEG PAIN; PHENOTYPE; PREPUBERTY; PRESCHOOL CHILD; PSEUDOHYPOPARATHYROIDISM; PSEUDOHYPOPARATHYROIDISM TYPE 1B; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY; VALGUS KNEE; VITAMIN BLOOD LEVEL;

CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 20; DISEASE PROGRESSION; FEMALE; FOLLOW-UP STUDIES; HUMANS; MALE; PEDIGREE; PSEUDOHYPOPARATHYROIDISM; UNIPARENTAL DISOMY;

EID: 79751531725     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2010.10.168     Document Type: Article

References (25)

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