Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of EI-Shanti syndrome
- Author
- TEEBI, Ahmad S1 ; DUPUIS, Lucie1 ; WHERRETT, Diane2 ; KHOURY, Anthony3 ; ZUCKER, Kenneth J4
[1] Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada
[2] Division of Endocrinology, The Hospital for Sick Children, Toronto, Ontario, Canada
[3] Division of Urology, The Hospital for Sick Children, Toronto, Ontario, Canada
[4] Child and Adolescent Gender Identity Clinic, Centre for Addiction and Mental Health, University of Toronto, Toronto, Ontario, Canada - Source
European journal of pediatrics. 2004, Vol 163, Num 3, pp 170-172, 3 p ; ref : 15 ref
- CODEN
- EJPEDT
- ISSN
- 0340-6199
- Scientific domain
- Genetics; Pediatrics
- Publisher
- Springer, Berlin
/
Springer, Heidelberg
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Author keyword
- Alopecia Microcephaly Sex reversal XY gonadal dysgenesis
- Keyword (fr)
- Alopécie Expression génique Génétique Inversion sexe Maladie congénitale Microcéphalie Poil Pédiatrie Retard staturopondéral Encéphale pathologie Malformation Peau pathologie Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Alopecia Gene expression Genetics Sex reversal Congenital disease Microcephaly Hair Pediatrics Growth retardation Cerebral disorder Malformation Skin disease Central nervous system disease Nervous system diseases
- Keyword (es)
- Alopecia Expresión genética Genética Inversión sexual Enfermedad congénita Microcefalia Pelo Pediatría Retraso pondoestatural Encéfalo patología Malformación Piel patología Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Generalities in medical sciences Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 15493495
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
10.1007/s00431-003-1380-y 
https://dx.doi.org/10.1007/s00431-003-1380-y
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