Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

American Journal of Human Genetics

Volumn 91, Issue 1, 2012, Pages 56-72

  Kim, Hyung Goo ^a,b,c   Kim, Hyun Taek ^d   Leach, Natalia T ^e   Lan, Fei ^e,f   Ullmann, Reinhard ^c   Silahtaroglu, Asli ^g   Kurth, Ingo ^h,i   Nowka, Anja ⁱ   Seong, Ihn Sik ^a   Shen, Yiping ^a,e,j   Talkowski, Michael E ^a,k   Ruderfer, Douglas ^a,k   Lee, Ji Hyun ^a   Glotzbach, Caron ^l   Ha, Kyungsoo ^b   Kjaergaard, Susanne ^m   Levin, Alex V ⁿ   Romeike, Bernd F ^o   Kleefstra, Tjitske ^p   Bartsch, Oliver ^q   Elsea, Sarah H ^r   Jabs, Ethylin Wang ^s,t   MacDonald, Marcy E ^a,k   Harris, David J ^e   Quade, Bradley J ^e   Ropers, Hans Hilger ^c   Shaffer, Lisa G ^l   Kutsche, Kerstin ⁱ   Layman, Lawrence C ^b   Tommerup, Niels ^g   Kalscheuer, Vera M ^c   Shi, Yang ^e   Morton, Cynthia C ^e,k   Kim, Cheol Hee ^d   Gusella, James F ^a,e,k   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b MEDICAL COLLEGE OF GEORGIA   (United States)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d Chungnam National University   (South Korea)

^e HARVARD MEDICAL SCHOOL   (United States)

^f Department of Structural Biology   (United States)

^g UNIVERSITY OF COPENHAGEN   (Denmark)

^h JENA UNIVERSITY HOSPITAL   (Germany)

ⁱ UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^j SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^k Medical and Population Genetics Program   (United States)

^l PERKINELMER INC   (United States)

^m Rigshospitalet   (Denmark)

ⁿ THOMAS JEFFERSON UNIVERSITY   (United States)

^o FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

^p RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^q JOHANNES GUTENBERG UNIVERSITY   (Germany)

^r VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

^s MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^t JOHNS HOPKINS UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; HISTONE DEACETYLASE; HOMEODOMAIN PROTEIN; SODIUM CHANNEL NAV1.3; VEGETABLE PROTEIN; ZEBRAFISH PROTEIN;

ABDOMINAL OBESITY; ADULT; APOPTOSIS; ARTICLE; ASTIGMATISM; BRACHYCEPHALY; BRAIN CORTEX ATROPHY; BRAIN DEVELOPMENT; CEREBROSPINAL FLUID; CHILD; CHROMATIN ASSEMBLY AND DISASSEMBLY; CHROMOSOME 11P; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; COGNITION; COMPUTER ASSISTED TOMOGRAPHY; CONCENTRATION LOSS; CONTROLLED STUDY; CRANIOFACIAL DEVELOPMENT; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL COORDINATION DISORDER; DEVELOPMENTAL DISORDER; DYSTONIA; EMBRYO; EPICANTHUS; FEEDING DISORDER; FEMALE; FUNNEL CHEST; GENE; GENE DISRUPTION; GENE MAPPING; GENE REPRESSION; GENE TARGETING; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; GROWTH INHIBITION; HAPLOINSUFFICIENCY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERACTIVITY; HYPERTELORISM; HYPOPLASIA; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; KARYOTYPE 46,XX; KARYOTYPE 46,XY; KARYOTYPING; LETHARGY; LYMPHOBLASTOID CELL LINE; MAJOR CLINICAL STUDY; MALE; MICROCEPHALY; MICROGNATHIA; MOUSE; MOUTH MALFORMATION; MUSCLE HYPOTONIA; MYOPIA; NERVE CELL NECROSIS; NONHUMAN; NOSE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; ORTHOLOGY; OTITIS MEDIA; PALPEBRAL FISSURE ANOMALY; PARIETAL CORTEX; PENIS DISEASE; PERCEPTION DEAFNESS; PHENOTYPE; PHF21A GENE; POTOCKI SHAFFER SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; RECURRENT DISEASE; RETINA DYSTROPHY; SHORT STATURE; SPEECH DEVELOPMENT; SUPRAVENTRICULAR TACHYCARDIA; TESTIS DISEASE; THUMB MALFORMATION; TRANSCRIPTION REGULATION;

ADOLESCENT; ADULT; ANIMALS; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 11; CRANIOFACIAL ABNORMALITIES; EXOSTOSES, MULTIPLE HEREDITARY; FEMALE; GENOTYPE; HAPLOINSUFFICIENCY; HISTONE DEACETYLASES; HUMANS; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MALE; NAV1.3 VOLTAGE-GATED SODIUM CHANNEL; SODIUM CHANNELS; TRANSLOCATION, GENETIC; ZEBRAFISH;

DANIO RERIO; MURINAE;

EID: 84863988746     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.05.005     Document Type: Article

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