Could FISH on buccal smears become a new method of screening in children suspect of HNF1B anomaly?

European Journal of Medical Genetics

Volumn 56, Issue 2, 2013, Pages 93-97

  Laffargue, Fanny ^a   Bourthoumieu, Sylvie ^a,c   Bellanné Chantelot, Christine ^b   Guigonis, Vincent ^a,c   Yardin, Catherine ^a,c  

^a Hopital de la Mere et de l'Enfant   (France)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^c DUPUYTREN UNIVERSITY HOSPITAL   (France)

Author keywords

17q12 microdeletion; Buccal smear; HNF1B deletion; Interphasic FISH

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 1BETA;

ARTICLE; CHILD; CHROMOSOME DELETION; CHROMOSOME MICRODELETION 17Q12; CLINICAL ARTICLE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC SCREENING; HUMAN; MALE; MOLECULAR GENETICS; ORAL BIOPSY; PRESCHOOL CHILD; SCHOOL CHILD;

CHILD; CHILD, PRESCHOOL; FEMALE; GENE DELETION; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KIDNEY DISEASES; MALE; MOUTH MUCOSA;

EID: 84873173473     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.12.002     Document Type: Article

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