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Lethal adrenal aplasia in an infant with Smith-Magenis syndrome (17p11.2 deletion)

Author
DENNY, A. D; WEIK, L. D; LUBINSKY, M. S; WYATT, D. T
Medical coll. Wisconsin, dep. plastic reconstructive surgery, Milwaukee WI 53226, United States
Source

Dysmorphology and clinical genetics. 1992, Vol 6, Num 4, pp 175-179 ; ref : 12 ref

ISSN
0893-6633
Scientific domain
Embryology, development; Genetics
Publisher
Liss, New York, NY
Publication country
United States
Document type
Article
Language
English
Keyword (fr)
Aplasie Chromosome E17 anormal Délétion Etude cas Insuffisance surrénalienne Nourrisson Surrénale Smith Magenis syndrome Aberration chromosomique Chromosome anormal Endocrinopathie Homme Malformation Surrénale pathologie
Keyword (en)
Aplasia Abnormal E17 chromosome Deletion Case study Adrenal insufficiency Infant Adrenal glands Chromosomal aberration Abnormal chromosome Endocrinopathy Human Malformation Adrenal gland diseases
Keyword (es)
Aplasia Cromosoma E17 anormal Deleción Estudio caso Insuficiencia suprarrenal Lactante Suprarrenal Aberración cromosómica Cromosoma anormal Endocrinopatía Hombre Malformación Suprarrenal patología
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23B Chromosome aberrations

Discipline
Medical genetics
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
3333521

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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