Novel mutation in the gene encoding the GATA3 transcription factor in a spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations
- Author
- HERNANDEZ, Alba M1 ; VILLAMAR, Manuela1 ; ROSELLO, Lidia2 ; MORENO-PELAYO, Miguel A1 ; MORENO, Felipe1 ; DEL CASTILLO, Ignacio1
[1] Unidad de Genética Molecular, Hospital Ramón y Cajal, Madrid, Spain
[2] Centro RV Alfa, Madrid, Spain - Source
American journal of medical genetics. Part A. 2007, Vol 143, Num 7, pp 757-762, 6 p ; ref : 3/4 p
- Publisher
- Wiley-Liss, Hoboken, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Dysplasie rénale Espagnol Etude cas Etude familiale Facteur transcription Femelle Gène Hypoparathyroïdie Malformation Mutation Surdité Syndrome Appareil urinaire pathologie Endocrinopathie Maladie congénitale ORL pathologie Parathyroïde pathologie Rein pathologie Trouble audition
- Keyword (en)
- Renal dysplasia Spanish Case study Family study Transcription factor Female Gene Hypoparathyroidism Malformation Mutation Hearing loss Syndrome Urinary system disease Endocrinopathy Congenital disease ENT disease Parathyroid diseases Kidney disease Auditory disorder
- Keyword (es)
- Displasia renal Español Estudio caso Estudio familiar Factor transcripción Hembra Gen Hipoparatiroidismo Malformación Mutación Sordera Síndrome Aparato urinario patología Endocrinopatía Enfermedad congénita ORL patología Paratiroides patología Riñón patología Trastorno auditivo
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B10 Otorhinolaryngology. Stomatology / 002B10D Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology / 002B10D02 Non tumoral diseases
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B21 Endocrinopathies / 002B21D Parathyroids. Parafollicular cells. Cholecalciferol. Phosphocalcic homeostasis (diseases) / 002B21D01 Non tumoral diseases. Target tissue resistance. Benign neoplasms
- Discipline
- Endocrinopathies Medical genetics Otorhinolaryngology. Stomatology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18654716
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.31617 
https://dx.doi.org/10.1002/ajmg.a.31617
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