Severe skeletal dysplasia caused by undiagnosed hypothyroidism

European Journal of Medical Genetics

Volumn 50, Issue 3, 2007, Pages 209-215

  Hüffmeier, Ulrike ^a   Tietze, Hans Ulrich ^b   Rauch, Anita ^a  

^a UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^b Cnopf's Pediatric Hospital   (Germany)

Author keywords

Congenital hypothyroidism; Ectopic thyroid; PAX8; Skeletal deformities; Skeletal dysplasia

Indexed keywords

THYROID HORMONE; THYROTROPIN RECEPTOR; THYROXINE; TRANSCRIPTION FACTOR PAX8;

ADOLESCENT; ANTERIOR FONTANEL; ARTICLE; BONE AGE; BONE DYSPLASIA; CASE REPORT; CLINICAL FEATURE; CONGENITAL HYPOTHYROIDISM; DISEASE SEVERITY; ECTOPIC THYROID GLAND; FACIES; FEMALE; GENE MUTATION; HORMONE SYNTHESIS; HUMAN; HYPERTELORISM; KYPHOSCOLIOSIS; LUMBAR SPINE; LUMBAR VERTEBRA; NEWBORN SCREENING; OSSIFICATION; THYROID DYSGENESIS; VERTEBRA MALFORMATION; X RAY;

ADOLESCENT; ADULT; BONE DISEASES, DEVELOPMENTAL; CONGENITAL HYPOTHYROIDISM; FEMALE; HUMANS; INFANT, NEWBORN; MENTAL RETARDATION; NEONATAL SCREENING; PAIRED BOX TRANSCRIPTION FACTORS;

EID: 34248594569     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.02.002     Document Type: Article

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