Cone-Rod Dystrophy, growth hormone deficiency and Spondyloepiphyseal Dysplasia: Report of a new case without Nephronophtisis

American Journal of Medical Genetics, Part A

Volumn 149, Issue 4, 2009, Pages 788-792

  Isidor, Bertrand ^a   Merrer, Martine Le ^b   Ramos, Emmanuelle ^a   Baron, Sabine ^a   David, Albert ^a  

^a NANTES UNIVERSITY HOSPITAL   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; RECOMBINANT GROWTH HORMONE; SOMATOMEDIN;

ADOLESCENT; ADULT; APGAR SCORE; BIRTH WEIGHT; BODY HEIGHT; CASE REPORT; CHILD; CLINICAL EVALUATION; CLINICAL EXAMINATION; CLINICAL FEATURE; EYE EXAMINATION; GROWTH HORMONE DEFICIENCY; HUMAN; LETTER; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RETINA CONE ROD DYSTROPHY; RETINA PIGMENT DEGENERATION; SCHOOL CHILD; SPONDYLOEPIPHYSEAL DYSPLASIA;

ADOLESCENT; HUMAN GROWTH HORMONE; HUMANS; MALE; NEPHRITIS, INTERSTITIAL; OSTEOCHONDRODYSPLASIAS; RETINITIS PIGMENTOSA; SYNDROME;

EID: 63749102167     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32343     Document Type: Letter

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