A pseudohypoparathyroidism type Ia patient with normocalcemia

Endocrine Journal

Volumn 55, Issue 1, 2008, Pages 169-173

  Tamada, Yasuko ^a,b   Kanda, Seiji ^a   Suzuki, Hiroko ^a   Tajima, Toshihiro ^c   Nishiyama, Toshimasa ^a  

^a KANSAI MEDICAL UNIVERSITY   (Japan)

^b Matsubara Municipal Hospital   (Japan)

^c HOKKAIDO UNIVERSITY   (Japan)

Author keywords

Albright's hereditary osteodystrophy; Missense mutation; Normocalcemia; PHP Ia

Indexed keywords

ARGININE; CALCITRIOL; CALCIUM; HISTIDINE; PARATHYROID HORMONE; GNAS PROTEIN, HUMAN; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN; UNCLASSIFIED DRUG;

ALBRIGHT SYNDROME; AMINO ACID SUBSTITUTION; ARTICLE; BRACHYDACTYLY; CALCIUM BLOOD LEVEL; CALCIUM URINE LEVEL; CASE REPORT; CHEMICAL ANALYSIS; CLINICAL FEATURE; DNA DETERMINATION; EXON; FEMALE; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; MENTAL DEFICIENCY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; OBESITY; OSSIFICATION; PARATHYROID HORMONE BLOOD LEVEL; PHOSPHATE BLOOD LEVEL; POLYMERASE CHAIN REACTION; PROTEIN URINE LEVEL; PSEUDOHYPOPARATHYROIDISM; SCHOOL CHILD; SEQUENCE ANALYSIS; SHORT STATURE; BLOOD; CHILD; GENETICS; GROWTH DISORDER; NUCLEOTIDE SEQUENCE; TOE PHALANX;

CALCIUM; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GROWTH DISORDERS; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; MUTATION, MISSENSE; PSEUDOHYPOPARATHYROIDISM; TOE PHALANGES;

EID: 42049112972     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.K07E-019     Document Type: Article

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