Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia

Human Molecular Genetics

Volumn 10, Issue 1, 2001, Pages 39-45

  Thomas, Paul Q ^a   Dattani, Mehul T ^b,c   Brickman, Joshua M ^b   McNay, David ^c   Warne, Garry ^a   Zacharin, Margaret ^a   Cameron, Fergus ^a   Hurst, Jane ^d   Woods, Katie ^e   Dunger, David ^e   Stanhope, Richard ^c   Forrest, Susan ^a   Robinson, Iain C A F ^b   Beddington, Rosa S P ^b  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b NATIONAL INSTITUTE FOR MEDICAL RESEARCH   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^e JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GROWTH HORMONE; MUTANT PROTEIN;

ADOLESCENT; ALLELE; ARTICLE; BRAIN; CHILD; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; DISEASE SEVERITY; DNA BINDING; FEMALE; GEL MOBILITY SHIFT ASSAY; GENE INACTIVATION; GENE LOCUS; GENE MUTATION; GROWTH HORMONE DEFICIENCY; HAPLOTYPE; HETEROZYGOSITY; HOMEOBOX; HOMOZYGOSITY; HUMAN; HYPOPITUITARISM; INCIDENCE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MULTIGENE FAMILY; OPTIC NERVE HYPOPLASIA; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; SEGREGATION ANALYSIS;

EID: 0035165103     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.1.39     Document Type: Article

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