Clinical report. Report of a fourth individual with a lethal syndrome of choanal atresia, athelia, evidence of renal tubulopathy, and family history of neck cysts
- Author
- HORVATH, Gabriella A1 ; ARMSTRONG, Linlea2
[1] Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada
[2] Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada - Source
American journal of medical genetics. Part A. 2007, Vol 143, Num 11, pp 1231-1235, 5 p ; ref : 1/4 p
- Publisher
- Wiley-Liss, Hoboken, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- athelia choanal atresia neck fistulas nipples
- Keyword (fr)
- Atrésie Cou Etude cas Etude familiale Fistule Homme Kyste Milieu familial Syndrome Tubulopathie Appareil urinaire pathologie Rein pathologie Tumeur bénigne
- Keyword (en)
- Atresia Neck Case study Family study Fistula Human Cyst Family environment Syndrome Tubulopathy Urinary system disease Kidney disease Benign neoplasm
- Keyword (es)
- Atresia Cuello Estudio caso Estudio familiar Fístula Hombre Quiste Medio familiar Síndrome Tubulopatía Aparato urinario patología Riñón patología Tumor benigno
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B14 Nephrology. Urinary tract diseases / 002B14A Nephropathies. Renovascular diseases. Renal failure / 002B14A03 Tubulopathies
- Discipline
- Medical genetics Nephrology. Urinary tract diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18817754
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.a.31734 
https://dx.doi.org/10.1002/ajmg.a.31734
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