Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia

Pediatrics

Volumn 115, Issue 2, 2005, Pages

  Mahmud, Farid H ^a   Linglart, Agnès ^b   Bastepe, Murat ^b   Jüppner, Harald ^b   Lteif, Aida N ^a  

^a MAYO CLINIC   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Genetics (molecular); Paroxysmal dyskinesia; Pseudohypoparathyroidism type Ib

Indexed keywords

CALCITRIOL; CALCIUM; CARBAMAZEPINE; PARATHYROID HORMONE; PHOSPHORUS;

ADOLESCENT; ARTICLE; CASE REPORT; CHOREOATHETOSIS; CHROMOSOME 20Q; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; DYSKINESIA; FAMILIAL DISEASE; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPERPHOSPHATEMIA; HYPOCALCEMIA; LABORATORY TEST; METABOLIC DISORDER; NEUROLOGIC DISEASE; PAROXYSMAL DYSKINESIA; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; PSEUDOHYPOPARATHYROIDISM TYPE 1B; SCHOOL CHILD; BLOOD; CHILD; CHOREA; CHROMOSOME DELETION; DIAGNOSTIC ERROR; GENETICS; PEDIGREE;

CHILD; CHOREATIC DISORDERS; CHROMOSOME DELETION; DIAGNOSTIC ERRORS; FEMALE; HUMANS; HYPOCALCEMIA; PEDIGREE; PHOSPHORUS; PSEUDOHYPOPARATHYROIDISM;

EID: 17644367429     PISSN: 00314005     EISSN: 00314005     Source Type: Journal    
DOI: 10.1542/peds.2004-1878     Document Type: Article

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