Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism

Nature Genetics

Volumn 38, Issue 6, 2006, Pages 682-687

  Senée, Valérie ^a,b   Chelala, Claude ^a,b   Duchatelet, Sabine ^a,b   Feng, Daorong ^c   Blanc, Hervé ^a,b   Cossec, Jack Christophe ^a,b   Charon, Céline ^d   Nicolino, Marc ^b,e   Boileau, Pascal ^b,f   Cavener, Douglas R ^c   Bougnères, Pierre ^b,f   Taha, Doris ^g   Julier, Cécile ^a,b  

^a INSTITUT PASTEUR   (France)

^b INSERM   (France)

^c PENNSYLVANIA STATE UNIVERSITY   (United States)

^d CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^e HÔPITAL DEBROUSSE   (France)

^f INSERM U449 ^*  (France)

^g KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR GLI3; UNCLASSIFIED DRUG;

ADULT; ANIMAL TISSUE; ARTICLE; CLINICAL FEATURE; CONGENITAL GLAUCOMA; CONGENITAL HYPOTHYROIDISM; DIABETES MELLITUS; DISEASE ASSOCIATION; EXON; EYE DEVELOPMENT; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE MAPPING; GENETIC LINKAGE; GLIS3 GENE; HUMAN; HUMAN TISSUE; KIDNEY DEVELOPMENT; KIDNEY POLYCYSTIC DISEASE; LINKAGE ANALYSIS; LIVER DEVELOPMENT; LIVER FIBROSIS; MOUSE; NEWBORN DISEASE; NONHUMAN; NUCLEOTIDE SEQUENCE; ORGANOGENESIS; PANCREAS ISLET BETA CELL; PREDICTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; THYROID GLAND;

ALLELES; ANIMALS; CONGENITAL HYPOTHYROIDISM; DIABETES MELLITUS; FEMALE; HUMANS; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SYNDROME; TRANSCRIPTION FACTORS;

EID: 33745268851     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1802     Document Type: Article

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