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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 / 002B01 General aspects

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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