Case of Myhre syndrome with autism and peculiar skin histological findings
- Author
- TITOMANLIO, L1 ; MARZANO, M. G1 ; ROSSI, E2 ; D'ARMIENTO, M3 ; DE BRASI, D1 ; VEGA, G. R1 ; ANDREUCCI, M. V1 ; ORSINI, A. V. M4 ; SANTORO, L4 ; SEBASTIO, G1
[1] Department of Pediatrics, Federico II University, Naples, Italy
[2] Biology and Medical Genetics, University of Pavia, Italy
[3] Department of Pathology, Federico II University, Naples, Italy
[4] Department of Neurological Science, Federico II University, Naples, Italy - Source
American journal of medical genetics. = Neuropsychiatric genetics. 2001, Vol 103, Num 2, pp 163-165 ; ref : 6 ref
- Publisher
- Wiley-Liss, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Arriération mentale Articulation Association Autisme Blépharophimosis Caractérisation Diagnostic Enfant Peau Symptomatologie Déficience intellectuelle Homme Malformation Oeil pathologie Paupière pathologie Trouble développement
- Keyword (en)
- Mental retardation Joint Association Autism Blepharophimosis Characterization Diagnosis Child Skin Symptomatology Intellectual deficiency Human Malformation Eye disease Eyelid disease Developmental disorder
- Keyword (es)
- Retraso mental Articulación Asociación Autismo Blefarofimosis Caracterización Diagnóstico Niño Piel Sintomatología Deficiencia intelectual Hombre Malformación Ojo patología Párpado patología Trastorno desarrollo
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B09 Ophthalmology / 002B09D Diseases of eyelid, conjunctiva and lacrimal tracts
- Discipline
- Ophthalmology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 14147973
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
10.1002/ajmg.1517 
https://dx.doi.org/10.1002/ajmg.1517
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