Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome

Archives of Disease in Childhood

Volumn 100, Issue 3, 2015, Pages 259-264

  Laffargue, Fanny ^a   Bourthoumieu, Sylvie ^b   Llanas, Brigitte ^c   Baudouin, Véronique ^d   Lahoche, Annie ^e   Morin, Denis ^f   Bessenay, Lucie ^a   De Parscau, Loïc ^g   Cloarec, Sylvie ^h   Delrue, Marie Ange ⁱ   Taupiac, Emmanuelle ^c   Dizier, Emilie ^b   Laroche, Cécile ^b   Bahans, Claire ^b   Yardin, Catherine ^b   Lacombe, Didier ⁱ   Guigonis, Vincent ^b,j  

^a UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^b LIMOGES UNIVERSITY HOSPITAL   (France)

^c BORDEAUX UNIVERSITY HOSPITAL   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f MONTPELLIER UNIVERSITY HOSPITAL   (France)

^g BREST UNIVERSITY HOSPITAL   (France)

^h UNIVERSITÉ DE TOURS   (France)

ⁱ UNIVERSITÉ DE BORDEAUX   (France)

^j UNIVERSITÉ DE LIMOGES   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 1BETA; HNF1B PROTEIN, HUMAN;

17Q12 MICRODELETION SYNDROME; ARTICLE; AUTISM; CHILD; CHROMOSOME DELETION; CLINICAL ARTICLE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HUMAN; MACROCEPHALY; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; NEUROLOGIC EXAMINATION; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROSPECTIVE STUDY; WECHSLER INTELLIGENCE SCALE; ADOLESCENT; CENTRAL NERVOUS SYSTEM DISEASE; CHROMOSOME 17; COMPLICATION; CONGENITAL MALFORMATION; ENAMEL; FRANCE; GENETICS; INFANT; KIDNEY POLYCYSTIC DISEASE; MENTAL DISEASE; NON INSULIN DEPENDENT DIABETES MELLITUS; PRESCHOOL CHILD;

ADOLESCENT; CENTRAL NERVOUS SYSTEM DISEASES; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; DENTAL ENAMEL; DIABETES MELLITUS, TYPE 2; FEMALE; FRANCE; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KIDNEY DISEASES, CYSTIC; MALE; MENTAL DISORDERS; PHENOTYPE; PROSPECTIVE STUDIES;

EID: 84923358693     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/archdischild-2014-306810     Document Type: Article

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