Phenotypic spectrum of POLR3B mutations: Isolated hypogonadotropic hypogonadism without neurological or dental anomalies

Journal of Medical Genetics

Volumn 54, Issue 1, 2017, Pages 19-25

  Richards, Mary R ^a   Plummer, Lacey ^a   Chan, Yee Ming ^a,b   Lippincott, Margaret F ^a   Quinton, Richard ^c   Kumanov, Philip ^d   Seminara, Stephanie B ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

Author keywords

[No Author keywords available]

Indexed keywords

CHORIONIC GONADOTROPIN; CLOMIFENE CITRATE; GONADORELIN; NUCLEOTIDE; SEX HORMONE; TESTOSTERONE CIPIONATE; DNA DIRECTED RNA POLYMERASE III; POLR3B PROTEIN, HUMAN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN MALFORMATION; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HORMONE SUBSTITUTION; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; IDIOPATHIC DISEASE; MAJOR CLINICAL STUDY; MALE; NEUROLOGIC DISEASE; PATHOGENICITY; PEDIGREE; PHENOTYPE; POLR3B GENE; PRIORITY JOURNAL; TOOTH MALFORMATION; WHOLE EXOME SEQUENCING; YOUNG ADULT; DRUG EFFECTS; EXOME; GENETICS; HYPOGONADISM; MUTATION; NEUROSECRETORY CELL;

ADOLESCENT; EXOME; FEMALE; GONADOTROPIN-RELEASING HORMONE; HUMANS; HYPOGONADISM; MALE; MUTATION; NEUROENDOCRINE CELLS; RNA POLYMERASE III; YOUNG ADULT;

EID: 84981495630     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2016-104064     Document Type: Article

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