Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor

Clinical Endocrinology

Volumn 60, Issue 2, 2004, Pages 220-227

  Park, S M ^a   Clifton Bligh, R J ^a   Betts, P ^b   Chatterjee, V K K ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; THREONINE; THYROID HORMONE; THYROTROPIN RECEPTOR;

ARTICLE; CELL SURFACE; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; DIAGNOSTIC IMAGING; ECHOGRAPHY; GENE AMPLIFICATION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC IDENTIFICATION; HEMIZYGOSITY; HETEROZYGOSITY; HUMAN; HYPOPHYSIS THYROID SYSTEM; HYPOTHYROIDISM; MISSENSE MUTATION; NEWBORN SCREENING; PARENTAL CONSENT; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS; STIMULATION; THYROID FUNCTION; THYROID GLAND;

CONGENITAL HYPOTHYROIDISM; FEMALE; GENE DELETION; HETEROZYGOTE; HUMANS; HYPOTHYROIDISM; INFANT, NEWBORN; MALE; NEONATAL SCREENING; PEDIGREE; RECEPTORS, THYROTROPIN; SEQUENCE ANALYSIS, DNA; THYROID FUNCTION TESTS; THYROID GLAND; THYROTROPIN-RELEASING HORMONE;

EID: 1042288131     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2004.01967.x     Document Type: Article

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