Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 7, 2012, Pages 1579-1588

  Goh, Elaine Suk Ying ^a   Perez, Irene C ^b   Canales, Cesar P ^b   Ruiz, Phillip ^b   Agatep, Ron ^c   Yoon, Grace ^a   Chitayat, David ^a   Dror, Yigal ^d   Shago, Mary ^a   Goobie, Sharan ^a   Sgro, Michael ^e   Walz, Katherina ^b   Mendoza Londono, Roberto ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^c MONTREAL CHILDREN S HOSPITAL   (Canada)

^d CHILDREN S HOSPITAL OF WESTERN ONTARIO   (Canada)

^e ST MICHAEL'S HOSPITAL   (Canada)

Author keywords

Duplication 17p11.2 syndrome; FLCN; Folliculin; Kidney abnormalities; Mouse model; Potocki Lupski syndrome

Indexed keywords

ADOLESCENT; ALKBH5 GENE; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; ATPAF2 GENE; C17ORF39 GENE; CHILD; CHROMOSOME 17; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME G BAND; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONTROLLED STUDY; COPS3 GENE; DISEASE ASSOCIATION; DRG2 GENE; FAILURE TO THRIVE; FEMALE; FLCN GENE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; KIAA0864 GENE; KIDNEY DISEASE; KIDNEY FUNCTION TEST; LLGL1 GENE; LRRC48 GENE; M RIP GENE; MALE; MED9 GENE; MOUSE; MPRIP GENE; MYO15A GENE; NONHUMAN; NT5M GENE; PEMT GENE; PHENOTYPE; PLD6 GENE; POTOCKI LUPSKI SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; RAI1 GENE; RASD1 GENE; SREBF1 GENE; TNFRSF13B GENE;

ADOLESCENT; ANIMALS; CHILD; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; DISEASE MODELS, ANIMAL; FEMALE; GENE DUPLICATION; HUMANS; INFANT; KIDNEY; MALE; MICE; PHENOTYPE; SMITH-MAGENIS SYNDROME; URINARY TRACT;

EID: 84862698780     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35399     Document Type: Article

References (18)

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