HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome

American Journal of Medical Genetics, Part A

Volumn 152, Issue 11, 2010, Pages 2854-2860

  Sanchez Valle, Amarilis ^a   Wang, Xueqing ^a   Potocki, Lorraine ^a   Xia, Zhilian ^a   Kang, Sung Hae L ^a   Carlin, Mary E ^c   Michel, Donnice ^c   Williams, Patricia ^a   Cabrera Meza, Gerardo ^a   Brundage, Ellen K ^a   Eifert, Anna L ^b   Stankiewicz, Pawel ^a   Cheung, Sau Wai ^a   Lalani, Seema R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c CHILDREN S MEDICAL CENTER   (United States)

Author keywords

Array CGH; BOR; Developmental delay; EYA1; LTR ERV1; Short stature

Indexed keywords

OXCARBAZEPINE;

ANTHROPOMETRY; ARTICLE; AUTISM; BRANCHIAL ARCH; BRANCHIOOTORENAL SYNDROME; CASE REPORT; CHROMOSOME YQ; CLUBFOOT; COLOBOMA; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CONDUCTION DEAFNESS; DNA SEQUENCE; EAR MALFORMATION; EVOKED BRAIN STEM AUDITORY RESPONSE; EYA1 GENE; FEEDING DISORDER; FEMALE; FRONTAL BOSSING; GENE; GENE DELETION; GENE REARRANGEMENT; GENE SEQUENCE; GROWTH HORMONE DEFICIENCY; GROWTH RETARDATION; HEARING AID; HIATUS HERNIA; HUMAN; HUMAN ENDOGENOUS RETROVIRAL SEQUENCE; KIDNEY AGENESIS; KIDNEY HYPOPLASIA; LOW SET EAR; MALE; MALE INFERTILITY; MICROGNATHIA; MICROPHTHALMIA; MIDFACE HYPOPLASIA; MOTOR ACTIVITY; MOTOR DYSFUNCTION; NEWBORN; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; SHORT STATURE; STOMACH FUNDOPLICATION; STOMACH TUBE; STRABISMUS; STRABISMUS SURGERY; UREMIA;

BRANCHIO-OTO-RENAL SYNDROME; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; ENDOGENOUS RETROVIRUSES; FEMALE; GENE DELETION; GENE REARRANGEMENT; GENOME, HUMAN; HUMANS; INFANT; INFANT, NEWBORN; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; NUCLEAR PROTEINS; PREGNANCY; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; PROTEIN TYROSINE PHOSPHATASES;

EID: 78049264971     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33686     Document Type: Article

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