Congenital isolated adrenocorticotropin deficiency: An underestimated cause of neonatal death, explained by TPIT gene mutations

Journal of Clinical Endocrinology and Metabolism

Volumn 90, Issue 3, 2005, Pages 1323-1331

  Vallette Kasic, Sophie ^a   Brue, Thierry ^b   Pulichino, Anne Marie ^a   Gueydan, Magali ^b   Barlier, Anne ^b   David, Michel ^c   Nicolino, Marc ^c   Malpuech, Georges ^d   Déchelotte, Pierre ^d   Deal, Cheri ^e   Van Vliet, Guy ^e   De Vroede, Monique ^f   Riepe, Felix G ^g   Partsch, Carl Joachim ^g   Sippell, Wolfgang G ^g   Berberoglu, Merih ^h   Atasay, Begüm ^h   De Zegher, Francis ⁱ   Beckers, Dominique ⁱ   Kyllo, Jennifer ^j   Donohoue, Patricia ^k   Fassnacht, Martin ^l   Hahner, Stefanie ^l   Allolio, Bruno ^l   Noordam, C ^m   Dunkel, Leo ⁿ   Hero, Matti ^o   Pigeon, B ^p   Weill, Jacques ^q   Yigit, Sevket ^r   Brauner, Raja ^s   Heinrich, Juan Jorge ^t   Cummings, Elizabeth ^u   Riddell, Christie ^u   Enjalbert, Alain ^b   Drouin, Jacques ^a   more..

^a CLIN RESEARCH INSTITUTE OF MONTREAL   (Canada)

^b Institut Jean Roche   (France)

^c CENTRE HOSPITALIER LYON SUD   (France)

^d HÔTEL DIEU   (France)

^e UNIVERSITY OF MONTREAL   (Canada)

^f UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^g UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^h ANKARA UNIVERSITY   (Turkey)

ⁱ UNIVERSITY OF LEUVEN   (Belgium)

^j CHILDREN S HOSPITALS AND CLINICS OF MINNESOTA   (United States)

^k UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^l UNIVERSITY OF WÜRZBURG   (Germany)

^m RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁿ UNIVERSITY OF EASTERN FINLAND   (Finland)

^o UNIVERSITY OF HELSINKI   (Finland)

^p CENTRE HOSPITALIER   (France)

^q LILLE UNIVERSITY HOSPITAL   (France)

^r Farmington   (United States)

^s BICÊTRE HOSPITAL   (France)

^t HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

^u DALHOUSIE UNIVERSITY   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; T BOX TRANSCRIPTION FACTOR; TPIT T BOX TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; HOMEODOMAIN PROTEIN; TBX19 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORTICOTROPIN DEFICIENCY; FAMILY; FEMALE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HORMONE SUBSTITUTION; HUMAN; HUMAN CELL; MALE; NEWBORN DEATH; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECESSIVE INHERITANCE; ADOLESCENT; ADULT; CAUSE OF DEATH; CHILD; GENETICS; MORTALITY; MUTATION; NEWBORN; NEWBORN DISEASE; ONSET AGE; PEDIGREE; RECESSIVE GENE;

ADOLESCENT; ADRENOCORTICOTROPIC HORMONE; ADULT; AGE OF ONSET; CAUSE OF DEATH; CHILD; FEMALE; GENES, RECESSIVE; HOMEODOMAIN PROTEINS; HUMANS; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; MALE; MUTATION; PEDIGREE; TRANSCRIPTION FACTORS;

EID: 20144388457     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-1300     Document Type: Article

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