Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction

Journal of Clinical Endocrinology and Metabolism

Volumn 96, Issue 10, 2011, Pages

  McCabe, Mark J ^a   Gaston Massuet, Carles ^b   Tziaferi, Vaitsa ^a   Gregory, Louise C ^a   Alatzoglou, Kyriaki S ^a   Signore, Massimo ^b   Puelles, Eduardo ^c   Gerrelli, Dianne ^b   Farooqi, I Sadaf ^d   Raza, Jamal ^e   Walker, Joanna ^f   Kavanaugh, Scott I ^g   Tsai, Pei San ^g   Pitteloud, Nelly ^h   Martinez Barbera, Juan Pedro ^b   Dattani, Mehul T ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c MIGUEL HERNÁNDEZ UNIVERSITY   (Spain)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^e NATIONAL INSTITUTE OF CHILD HEALTH   (Pakistan)

^f ST MARY S HOSPITAL   (United Kingdom)

^g UNIVERSITY OF COLORADO   (United States)

^h UNIVERSITY OF LAUSANNE   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

DESMOPRESSIN; HYDROCORTISONE;

ANIMAL TISSUE; ARTICLE; CHILD; CONTROLLED STUDY; CORPUS CALLOSUM; CORTICOTROPIN DEFICIENCY; CRANIOFACIAL MALFORMATION; DIABETES INSIPIDUS; DIENCEPHALON; EMBRYO; ETHNICITY; FEMALE; FGF8 GENE; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; GROWTH RATE; HETEROZYGOSITY; HOLOPROSENCEPHALY; HOMOZYGOSITY; HUMAN; HYPOTHALAMO PITUITARY DYSFUNCTION; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MICROCEPHALY; MICROGNATHIA; MOUSE; MUTATIONAL ANALYSIS; NEUROENDOCRINE DISEASE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PALATE DISEASE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL;

AGENESIS OF CORPUS CALLOSUM; ARGININE VASOPRESSIN; CRANIOFACIAL ABNORMALITIES; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLAST GROWTH FACTOR 8; HOLOPROSENCEPHALY; HUMAN GROWTH HORMONE; HUMANS; HYDROCORTISONE; HYPOTHALAMIC DISEASES; HYPOTHALAMO-HYPOPHYSEAL SYSTEM; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; INFANT; MAGNETIC RESONANCE IMAGING; MUTATION; PITUITARY DISEASES; PITUITARY GLAND; PROSENCEPHALON; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 1; SEPTO-OPTIC DYSPLASIA; THYROTROPIN;

MURINAE; MUS;

EID: 80053551866     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2011-0454     Document Type: Article

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