Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 8, 2010, Pages 4031-4036

  Castanet, Mireille ^a,c   Mallya, Uma ^b   Agostini, Maura ^a   Schoenmakers, Erik ^a   Mitchell, Catherine ^a   Demuth, Stephanie ^d   Raymond, F Lucy ^b   Schwabe, John ^e   Gurnell, Mark ^a   Chatterjee, V Krishna K ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d Gemeinschaftspraxis für Humangenetik   (Germany)

^e UNIVERSITY OF LEICESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FOXE1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 9Q; CONGENITAL HYPOTHYROIDISM; COPY NUMBER VARIATION; DNA SEQUENCE; EXTRACHROMOSOMAL INHERITANCE; FAMILY; FATHER; FEMALE; GENE FUNCTION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HOMOZYGOSITY; HUMAN; LOSS OF FUNCTION MUTATION; MICROSATELLITE MARKER; MISSENSE MUTATION; MOTHER; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BINDING; UNIPARENTAL DISOMY; WILD TYPE;

EID: 77955390096     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2010-0275     Document Type: Article

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