TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis

Journal of Pediatric Endocrinology and Metabolism

Volumn 25, Issue 5-6, 2012, Pages 419-426

  Cangul, Hakan ^a   Aycan, Zehra ^b   Saglam, Halil ^c   Forman, Julia R ^d   Cetinkaya, Semra ^b   Tarim, Omer ^c   Bober, Ece ^e   Cesur, Yasar ^f   Kurtoglu, Selim ^g   Darendeliler, Feyza ^h   Bas, Veysel ^b   Eren, Erdal ^c   Demir, Korcan ^e   Kiraz, Aslihan ⁱ   Aydin, Banu K ^h   Karthikeyan, Ambika ^j   Kendall, Michaela ^k   Boelaert, Kristien ^a   Shaw, Nick J ^j   Kirk, Jeremy ^j   Högler, Wolfgang ^j   Barrett, Timothy G ^a,j   Maher, Eamonn R ^a   more..

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b Children Research Hospital   (Turkey)

^c ULUDAG UNIVERSITY   (Turkey)

^d INSTITUT PASTEUR   (France)

^e Faculty of Medicine   (Turkey)

^f YUZUNCU YIL UNIVERSITY   (Turkey)

^g ERCIYES UNIVERSITY   (Turkey)

^h ISTANBUL UNIVERSITY   (Turkey)

ⁱ Maternity and Children Hospital ^*  (Turkey)

^j BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^k UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

more..

Author keywords

Autosomal recessive; Congenital hypothyroidism; Consanguineous; Mutation; Thyroid dysgenesis; TSHR

Indexed keywords

TRANSCRIPTION FACTOR NKX2.5; TRANSCRIPTION FACTOR PAX8; MICROSATELLITE DNA; THYROTROPIN RECEPTOR;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; PHENOTYPE; THYROID DYSGENESIS; TSHR GENE; ADOLESCENT; CHEMISTRY; CHILD; DIMERIZATION; GENETIC ASSOCIATION; GENETICS; POINT MUTATION; PRESCHOOL CHILD; PROTEIN SECONDARY STRUCTURE; PROTEIN TERTIARY STRUCTURE; RECESSIVE GENE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CONGENITAL HYPOTHYROIDISM; DIMERIZATION; FEMALE; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MICROSATELLITE REPEATS; POINT MUTATION; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, THYROTROPIN; THYROID DYSGENESIS; YOUNG ADULT;

EID: 84865620341     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/jpem-2012-0053     Document Type: Article

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