New mutation type in pseudohypoparathyroidism type Ia

Clinical Endocrinology

Volumn 69, Issue 5, 2008, Pages 705-712

  Fernandez Rebollo, Eduardo ^a   Barrio, Raquel ^b   Pérez Nanclares, Gustavo ^a   Carcavilla, Atilano ^b   Garin, Intza ^a   Castaño, Luis ^a,c   De Nanclares, Guiomar Pérez ^a,c  

^a HOSPITAL DE CRUCES   (Spain)

^b HOSPITAL RAMÓN Y CAJAL   (Spain)

^c INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITRIOL; CALCIUM; LEVOTHYROXINE; PARATHYROID HORMONE; RNA; THYROTROPIN; THYROXINE;

ARTICLE; CALCIUM BLOOD LEVEL; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL HYPOTHYROIDISM; DAIRY PRODUCT; DUAL ENERGY X RAY ABSORPTIOMETRY; FAHR DISEASE; FOLLOW UP; GENETIC VARIABILITY; HUMAN; LABORATORY TEST; LOW CALORY DIET; MALE; MENTAL DEFICIENCY; MUTANT; MUTATION; NEWBORN SCREENING; OBESITY; PARATHYROID HORMONE BLOOD LEVEL; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; SEPTICEMIA; STREPTOCOCCUS AGALACTIAE; THYROID SCINTISCANNING; THYROTROPIN BLOOD LEVEL; THYROXINE BLOOD LEVEL; TREATMENT DURATION; VITAMIN SUPPLEMENTATION;

BASE SEQUENCE; CHILD, PRESCHOOL; CONGENITAL HYPOTHYROIDISM; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; MALE; MENTAL RETARDATION; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEIC ACID CONFORMATION; PEDIGREE; POLYDACTYLY; PSEUDOHYPOPARATHYROIDISM;

EID: 54049142166     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2008.03255.x     Document Type: Article

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