Erratum: The prevalence of CHD7 missense versus truncating mutations is higher in patients with kallmann syndrome than in typical CHARGE patients (Journal of Clinical Endocrinology and Metabolism (2014) 99:10 (E2138-E2143) DOI: 10.1210/jc.2014-2110);The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 10, 2014, Pages E2138-E2143

  Marcos, Séverine ^a   Sarfati, Julie ^b,r   Leroy, Chrystel ^b   Fouveaut, Corinne ^b   Parent, Philippe ^c   Metz, Chantal ^c   Wolczynski, Slawomir ^d   Gérard, Marion ^e   Bieth, Eric ^f   Kurtz, François ^g   Verier Mine, Odile ^h   Perrin, Laurence ⁱ   Archambeaud, Françoise ^j   Cabrol, Sylvie ^k   Rodien, Patrice ^l   Hove, Hanne ^m   Prescott, Trine ⁿ   Lacombe, Didier ^o   Christin Maitre, Sophie ^k   Touraine, Philippe ^k   Hieronimus, Sylvie ^p   Dewailly, Didier ^q   Young, Jacques ^r   Pugeat, Michel ^s   Hardelin, Jean Pierre ^t   Dodé, Catherine ^a,b   more..

^a Laboratoire de Génétique Moléculaire Faculté des Sciences Pharmaceutiques   (France)

^b Institut Cochin   (France)

^c CHU MORVAN   (France)

^d Department of Reproduction and Gynecological Endocrinology ^*  (Poland)

^e CHU Clemenceau   (France)

^f CHU PURPAN   (France)

^g Hopital Bel Air CHR Metz   (France)

^h CENTRE HOSPITALIER DE VALENCIENNES   (France)

ⁱ HÔPITAL ROBERT DEBRÉ   (France)

^j Hopital du Cluzeau   (France)

^k ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^l ANGERS UNIVERSITY HOSPITAL   (France)

^m Mental Health Center Glostrup   (Denmark)

ⁿ OSLO UNIVERSITY HOSPITAL   (Norway)

^o HÔPITAL PELLEGRIN   (France)

^p CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^q LILLE UNIVERSITY HOSPITAL   (France)

^r BICÊTRE HOSPITAL   (France)

^s HÔPITAL NEUROLOGIQUE   (France)

^t INSTITUT PASTEUR   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHD7 GENE; CHILD; CLEFT LIP; CLEFT PALATE; CLINICAL FEATURE; CODON; COHORT ANALYSIS; CONGENITAL DEAFNESS; CONTROLLED STUDY; DISEASE TRANSMISSION; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DUPLICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; KALLMANN SYNDROME; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; PRACTICE GUIDELINE; PRESCHOOL CHILD; PREVALENCE; RNA SPLICING; SAMPLE SIZE; SCHOOL CHILD; SYNDROME CHARGE; TRUNCATING MUTATION; YOUNG ADULT; CHARGE SYNDROME; FAMILY HEALTH; GENETICS; GENOTYPE; HETEROZYGOTE; PEDIGREE; PHENOTYPE;

CHD7 PROTEIN, HUMAN; DNA BINDING PROTEIN; DNA HELICASE;

ADOLESCENT; ADULT; CHARGE SYNDROME; CHILD; CHILD, PRESCHOOL; DNA HELICASES; DNA-BINDING PROTEINS; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; HETEROZYGOTE; HUMANS; KALLMANN SYNDROME; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PREVALENCE; YOUNG ADULT;

EID: 84907602233     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.20144157     Document Type: Erratum

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