Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism

PLoS Medicine

Volumn 5, Issue 4, 2008, Pages 0669-0679

  Kossack, Nina ^a   Simoni, Manuela ^a   Richter Unruh, Annette ^b   Themmen, Axel P N ^c   Gromoll, Jörg ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b Endokrinologikum Ruhr   (Germany)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CHORIONIC GONADOTROPIN RECEPTOR; LUTEINIZING HORMONE RECEPTOR; LUTEINIZING HORMONE;

ADULT; ARTICLE; CELL HYPERPLASIA; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; LEYDIG CELL HYPERPLASIA; MALE; MALE PSEUDOHERMAPHRODITISM; NUCLEOTIDE SEQUENCE; RECEPTOR GENE; STOP CODON; CASE REPORT; FEMALE; GENETICS; LEYDIG CELL; METABOLISM; MUTATION; PATHOLOGY; SEX DIFFERENTIATION DISORDER; TESTIS;

ADULT; DISORDERS OF SEX DEVELOPMENT; EXONS; FEMALE; HUMANS; LEYDIG CELLS; LUTEINIZING HORMONE; MALE; MUTATION; RECEPTORS, LH; TESTIS;

EID: 43249113471     PISSN: 15491277     EISSN: 15491676     Source Type: Journal    
DOI: 10.1371/journal.pmed.0050088     Document Type: Article

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