The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

American Journal of Medical Genetics, Part A

Volumn 161, Issue 8, 2013, Pages 1833-1852

  Curry, Cynthia J ^a,b   Rosenfeld, Jill A ^c   Grant, Erica ^b   Gripp, Karen W ^d   Anderson, Carol ^e   Aylsworth, Arthur S ^f   Saad, Taha Ben ^g   Chizhikov, Victor V ^h   Dybose, Giedre ⁱ   Fagerberg, Christina ^j   Falco, Michelle ^k   Fels, Christina ^l   Fichera, Marco ^k   Graakjaer, Jesper ^j   Greco, Donatella ^k   Hair, Jennifer ^m   Hopkins, Elizabeth ^d   Huggins, Marlene ⁿ   Ladda, Roger ⁿ   Li, Chumei ^o   Moeschler, John ^p   Nowaczyk, Malgorzata J M ^o   Ozmore, Jillian R ^p   Reitano, Santina ^k   Romano, Corrado ^k   Roos, Laura ^q   Schnur, Rhonda E ^r   Sell, Susan ⁿ   Suwannarat, Pim ^s   Svaneby, Dea ^j   Szybowska, Marta ^o   Tarnopolsky, Mark ^o   Tervo, Raymond ^t   Tsai, Anne Chun Hui ^u   Tucker, Megan ^g   Vallee, Stephanie ^p   Wheeler, Ferrin C ^v   Zand, Dina J ^w   Barkovich, A James ^a   Aradhya, Swaroop ^x   Shaffer, Lisa G ^c,z   Dobyns, William B ^h,y   more..

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Genetic Medicine Central California/UCSF   (United States)

^c PERKINELMER INC   (United States)

^d NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^e THOMAS JEFFERSON UNIVERSITY   (United States)

^f UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^g ST VINCENT HOSPITAL   (United States)

^h SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

ⁱ ESBJERG HOSPITAL   (Denmark)

^j LILLEBAELT HOSPITAL   (Denmark)

^k OASI RESEARCH INSTITUTE IRCCS   (Italy)

^l Integrated Genetics   (United States)

^m KAISER PERMANENTE   (United States)

ⁿ PENN STATE CHILDREN S HOSPITAL   (United States)

^o MCMASTER UNIVERSITY   (Canada)

^p DARTMOUTH HITCHCOCK MEDICAL CENTER   (United States)

^q Kennedy Center   (Denmark)

^r Cooper Medical School of Rowan University ^*  (United States)

^s KAISER FOUNDATION HOSPITAL   (United States)

^t GILLETTE CHILDREN'S SPECIALTY HEALTHCARE   (United States)

^u OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^v VANDERBILT UNIVERSITY   (United States)

^w CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^x GENEDX   (United States)

^y UNIVERSITY OF WASHINGTON   (United States)

^z Paw Print Genetics Genetic Veterinary Sciences Inc   (United States)

more..

Author keywords

17p13.3; ABR; Autism; BHLHA9; Cleft lip palate; LIS1; Marfanoid habitus; Microarray; Split hand foot long bone deficiency; YWHAE

Indexed keywords

ABR GENE; ADOLESCENT; ADULT; ARM MALFORMATION; ARTICLE; AUTISM; BHLHA9 GENE; BRAIN ATROPHY; BRAIN MALFORMATION; CHILD; CHROMOSOME 17P; CHROMOSOME DUPLICATION; CLEFT LIP PALATE; CLINICAL ARTICLE; COGNITIVE DEFECT; CRK GENE; DEVELOPMENTAL DISORDER; DNA FLANKING REGION; FACE DYSMORPHIA; FAMILY HISTORY; FEMALE; GENE; GENE DISRUPTION; GENETIC ANALYSIS; HUMAN; INFANT; LEG MALFORMATION; LIS1 GENE; MALE; MARFAN SYNDROME; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; YWHAE GENE;

17P13.3; ABR; AUTISM; BHLHA9; CLEFT LIP/PALATE; LIS1; MARFANOID HABITUS; MICROARRAY; SPLIT HAND FOOT LONG BONE DEFICIENCY; YWHAE;

1-ALKYL-2-ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE; 14-3-3 PROTEINS; ADOLESCENT; ADULT; BRAIN; CHILD; CHILD BEHAVIOR DISORDERS; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; GENE DUPLICATION; HUMANS; INFANT; MALE; MICROTUBULE-ASSOCIATED PROTEINS; PHENOTYPE;

EID: 84880740522     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35996     Document Type: Article

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