A hypomorphic allele in the FGF8 gene contributes to holoprosencephaly and is allelic to gonadotropin-releasing hormone deficiency in humans

Molecular Syndromology

Volumn 1, Issue 2, 2010, Pages 59-66

  Arauz, R F ^a   Solomon, B D ^a   Pineda Alvarez, D E ^a   Gropman, A L ^a,b   Parsons, J A ^c   Roessler, E ^a   Muenke, M ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^c CHILDREN S HOSPITAL COLORADO   (United States)

Author keywords

Anterior pituitary; FGF8; Holoprosencephaly; HPE; IHH

Indexed keywords

FIBROBLAST GROWTH FACTOR 8; GONADORELIN;

ALLELE; ARTICLE; CLEFT PALATE; CONTROLLED STUDY; DIABETES INSIPIDUS; DIZYGOTIC TWINS; DNA DENATURATION; DNA SEQUENCE; FAMILY; FEMALE; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HOLOPROSENCEPHALY; HORMONE DEFICIENCY; HUMAN; MAJOR CLINICAL STUDY; MICROCEPHALY; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEIZURE;

MUS;

EID: 78649513377     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000302285     Document Type: Article

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