Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome

Pediatrics

Volumn 126, Issue 6, 2010, Pages

  Dauber, Andrew ^a,b   Hirschhorn, Joel N ^a,c,d   Picker, Jonathan ^a   Maher, Thomas A ^e   Milunsky, Aubrey ^e  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MIT DIVISION OF HEALTH SCIENCES AND TECHNOLOGY   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^e BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

CHARGE; CHD7; Delayed puberty; Hypogonadotrophic hypogonadism; Kallmann syndrome

Indexed keywords

FOLLITROPIN; LUTEINIZING HORMONE; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C;

ADOLESCENT; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; BODY MASS; BONE RADIOGRAPHY; BREAST DEVELOPMENT; CASE REPORT; CHD7 GENE; COMPUTER ASSISTED TOMOGRAPHY; DELAYED PUBERTY; FEMALE; FOLLITROPIN BLOOD LEVEL; GENE; GENE MUTATION; GENETIC SCREENING; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; IRIS COLOBOMA; KALLMANN SYNDROME; LUTEINIZING HORMONE BLOOD LEVEL; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SYNDROME CHARGE;

ADOLESCENT; CHARGE SYNDROME; DIAGNOSIS, DIFFERENTIAL; DNA; DNA HELICASES; DNA-BINDING PROTEINS; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MUTATION; PUBERTY, DELAYED; TOMOGRAPHY, X-RAY COMPUTED;

EID: 78649662147     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2010-0164     Document Type: Article

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