Prioritizing genetic testing in patients with kallmann syndrome using clinical phenotypes

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 5, 2013, Pages

  Costa Barbosa, Flavia Amanda ^a   Balasubramanian, Ravikumar ^a   Keefe, Kimberly W ^a   Shaw, Natalie D ^a   Al Tassan, Nada ^b   Plummer, Lacey ^a   Dwyer, Andrew A ^c   Buck, Cassandra L ^a   Choi, Jin Ho ^a   Seminara, Stephanie B ^a   Quinton, Richard ^d   Monies, Dorota ^b   Meyer, Brian ^b   Hall, Janet E ^a   Pitteloud, Nelly ^c   Crowley, William F ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^d ROYAL VICTORIA INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GONADORELIN DERIVATIVE;

ADULT; ARTICLE; BODY MASS; CHD7 GENE; CLEFT LIP; CLEFT PALATE; COHORT ANALYSIS; CONTRACEPTION; CONTROLLED STUDY; FEMALE; FGF8 GENE; FGFR1 GENE; FINGER MALFORMATION; GENE; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC SCREENING; GENETIC VARIABILITY; HEARING IMPAIRMENT; HETEROZYGOSITY; HORMONE DEFICIENCY; HS6ST1 GENE; HUMAN; HYPODONTIA; KAL1 GENE; KALLMANN SYNDROME; KIDNEY DISEASE; MAJOR CLINICAL STUDY; MALE; NELF GENE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROK2 GENE; PUBERTY; SIGNAL TRANSDUCTION; SYNDROME CHARGE; SYNKINESIS; TESTIS SIZE; TREATMENT RESPONSE;

EID: 84877703101     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-4116     Document Type: Article

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