Kallmann syndrome caused by mutations in the PROK2 and PROKR2 Genes: Pathophysiology and genotype-phenotype correlations

Frontiers of Hormone Research

Volumn 39, Issue , 2010, Pages 121-132

  Sarfati, Julie ^a,b   Dodé, Catherine ^b   Young, Jacques ^a,c  

^a UNIVERSITÉ PARIS SACLAY   (France)

^b INSERM   (France)

^c BICÊTRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ENDOCRINE GLAND DERIVED VASCULAR ENDOTHELIAL GROWTH FACTOR; FOLLITROPIN; GONADORELIN; GROWTH FACTOR; HYDROCORTISONE; LUTEINIZING HORMONE; PROKINETICIN 2; PROKINETICIN RECEPTOR 2; TESTOSTERONE; UNCLASSIFIED DRUG;

AGENESIS; ALLELE; ANOSMIA; AUTOSOMAL RECESSIVE INHERITANCE; CELL MIGRATION; CIRCADIAN RHYTHM; CLINICAL FEATURE; CRYPTORCHISM; DISEASE ASSOCIATION; FOLLITROPIN BLOOD LEVEL; FOOD INTAKE; FRAMESHIFT MUTATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GONADOTROPIN BLOOD LEVEL; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYPOGONADOTROPIC HYPOGONADISM; HYPOPLASIA; HYPOSMIA; IDIOPATHIC DISEASE; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM; KALLMANN SYNDROME; KNOCKOUT MOUSE; LOSS OF FUNCTION MUTATION; LUTEINIZING HORMONE BLOOD LEVEL; MICROPENIS; MISSENSE MUTATION; NERVE CELL; NONHUMAN; NONSENSE MUTATION; OBESITY; OLFACTORY BULB; PATHOPHYSIOLOGY; POINT MUTATION; PREVALENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN STRUCTURE; PUBERTY; REVIEW; SLEEP DISORDER; SMELLING; TESTOSTERONE BLOOD LEVEL;

AMINO ACID SEQUENCE; ANIMALS; GASTROINTESTINAL HORMONES; GENETIC ASSOCIATION STUDIES; HUMANS; KALLMANN SYNDROME; MICE; MICE, KNOCKOUT; NEUROPEPTIDES; OLFACTORY BULB; PEDIGREE; RECEPTORS, G-PROTEIN-COUPLED; RECEPTORS, PEPTIDE;

EID: 84925970682     PISSN: 03013073     EISSN: None     Source Type: Book Series    
DOI: 10.1159/000312698     Document Type: Review

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