The phenotype of short stature homeobox gene (SHOX) deficiency in childhood : Contrasting children with leri-weill dyschondrosteosis and turner syndrome
- Author
- ROSS, Judith L; KOWAL, Karen; QUIGLEY, Charmian A; BLUM, Werner F; CUTLER, Gordon B; CROWE, Brenda; HOVANES, Karine; ELDER, Frederick F; ZINN, Andrew R
A. I. duPont Hospital for Children, Wilmington, Delaware, United States
Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania, United States
Eli Lilly and Company, Indianapolis, Indiana, United States
Eugene McDermott Centerfor Human Growth and Development and the Department of Internal Medicine and the Department of Pathology, The University of Texas Southwestern Medical School, Dallas, Texas, United States
Molecular Endocrinology, Etoterix Endocrinology, Calabasas Hills, California, United States - Source
The Journal of pediatrics. 2005, Vol 147, Num 4, pp 499-507, 9 p ; ref : 41 ref
- CODEN
- JOPDAB
- ISSN
- 0022-3476
- Scientific domain
- Pediatrics
- Publisher
- Elsevier, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Dyschondrostéose Déficit Enfant Gonade Gène homéotique Phénotype Pédiatrie Retard staturopondéral Turner syndrome Gène SHOX Aberration chromosomique Anomalie différenciation sexuelle Appareil génital femelle pathologie Appareil génital Dysgénésie Homme Maladie héréditaire Malformation Ostéochondrodysplasie Système ostéoarticulaire pathologie
- Keyword (en)
- Dyschondrosteosis Deficiency Child Gonad Homeotic gene Phenotype Pediatrics Growth retardation Turner syndrome SHOX gene Chromosomal aberration Sexual differentiation disorder Female genital diseases Genital system Dysgenesia Human Genetic disease Malformation Osteochondrodysplasia Diseases of the osteoarticular system
- Keyword (es)
- Discondroosteosis Déficiencia Niño Gónada Gen homeótico Fenotipo Pediatría Retraso pondoestatural Turner síndrome Aberración cromosómica Anomalía diferenciación sexual Aparato genital hembra patología Aparato genital Disgenesia Hombre Enfermedad hereditaria Malformación Osteocondrodisplasia Sistema osteoarticular patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B15 Diseases of the osteoarticular system / 002B15H Malformations and congenital and or hereditary diseases involving bones. Joint deformations
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B20 Gynecology. Andrology. Obstetrics / 002B20D Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance
- Discipline
- Generalities in medical sciences Gynecology. Andrology. Obstetrics Osteoarticular pathology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 17260303
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1016/j.jpeds.2005.04.069 
https://dx.doi.org/10.1016/j.jpeds.2005.04.069
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