Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome

European Journal of Human Genetics

Volumn 16, Issue 7, 2008, Pages 865-868

  Leroy, Chrystel ^a   Fouveaut, Corinne ^a   Leclercq, Sandrine ^a   Jacquemont, Sébastien ^b   Boullay, Hélène Du ^c   Lespinasse, James ^c   Delpech, Marc ^a   Dupont, Jean Michel ^a   Hardelin, Jean Pierre ^d   Dodé, Catherine ^a,e  

^a APHP ^*  (France)

^b LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^c CENTRE HOSPITALIER DE CHAMBÉRY   (France)

^d INSTITUT PASTEUR   (France)

^e INSTITUT COCHIN   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; GONADOTROPIN DERIVATIVE; GUANINE NUCLEOTIDE BINDING PROTEIN; PROKINETICIN 2; PROTEIN KAL1; TESTOSTERONE;

ADULT; ALLELE; ANOSMIA; ARTICLE; AZOOSPERMIA; CASE REPORT; FRAMESHIFT MUTATION; GENE DELETION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; KALLMANN SYNDROME; KNOCKOUT MOUSE; MALE; MICROPENIS; MISSENSE MUTATION; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PUBERTY DISORDERS; VIRILIZATION; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; ALLELES; ANIMALS; DNA MUTATIONAL ANALYSIS; FEMALE; GASTROINTESTINAL HORMONES; HUMANS; KALLMANN SYNDROME; MALE; MICE; MUTATION; NEUROPEPTIDES; PEDIGREE;

MUS;

EID: 45749083795     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.15     Document Type: Article

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