Genotype-phenotype analysis of the branchio-oculo-facial syndrome

American Journal of Medical Genetics, Part A

Volumn 155, Issue 1, 2011, Pages 22-32

  Milunsky, Jeff M ^a   Maher, Tom M ^a   Zhao, Geping ^a   Wang, Zhenyuan ^a   Mulliken, John B ^b   Chitayat, David ^c   Clemens, Michele ^d   Stalker, Heather J ^e   Bauer, Mislen ^f   Burch, Michele ^e   Chénier, Sébastien ^g   Cunningham, Michael L ^h   Drack, Arlene V ⁱ   Janssens, Sandra ^j   Karlea, Audrey ^k   Klatt, Regan ^c   Kini, Usha ^l   Klein, Ophir ^m   Lachmeijer, Augusta M ⁿ   Megarbane, Andre ^o,p   Mendelsohn, Nancy J ^q   Meschino, Wendy S ^r   Mortier, Geert R ^s   Parkash, Sandhya ^t   Ray, C Renai ⁱ   Roberts, Angharad ^u   Roberts, Amy ^b   Reardon, Willie ^c   Schnur, Rhonda E ^v   Smith, Rosemarie ^w   Splitt, Miranda ^x   Tezcan, Kamer ^k   Whiteford, Margo L ^y   Wong, Derek A ^z   Zori, Roberto ^e   Lin, Angela E ^aa   more..

^a BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d UNIVERSITY OF PITTSBURGH   (United States)

^e UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^f MIAMI CHILDREN'S HOSPITAL   (United States)

^g UNIVERSITY OF MONTREAL   (Canada)

^h UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

ⁱ UNIVERSITY OF IOWA   (United States)

^j GHENT UNIVERSITY HOSPITAL   (Belgium)

^k Ghent University Hospital ^*  (United States)

^l CHURCHILL HOSPITAL   (United Kingdom)

^m UNIVERSITY OF CALIFORNIA   (United States)

ⁿ VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^o SAINT JOSEPH UNIVERSITY   (Lebanon)

^p AIX MARSEILLE UNIVERSITY   (France)

^q CHILDREN S HOSPITALS AND CLINICS OF MINNESOTA   (United States)

^r UNIVERSITY OF TORONTO   (Canada)

^s ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^t IWK HEALTH CENTRE   (Canada)

^u IMPERIAL COLLEGE LONDON   (United Kingdom)

^v Department of Anesthesiology   (United States)

^w MAINE MEDICAL CENTER   (United States)

^x INSTITUTE OF HUMAN GENETICS   (United Kingdom)

^y ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^z CHILDREN S HOSPITAL LOS ANGELES   (United States)

^aa MASSACHUSETTS GENERAL HOSPITAL   (United States)

more..

Author keywords

Branchio oculo facial syndrome; Cleft lip palate; Mutation analysis; Neurocristopathy; TFAP2A

Indexed keywords

TRANSCRIPTION FACTOR AP 2; TRANSCRIPTION FACTOR AP 2 ALPHA; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTISM; AUTOSOMAL DOMINANT DISORDER; BRANCHIO OCULO FACIAL SYNDROME; CHILD; CLEFT LIP PALATE; CLINICAL FEATURE; COLOBOMA; CONTROLLED STUDY; EXON; FALLOT TETRALOGY; FEMALE; GENE DELETION; GENETIC CONSERVATION; GENOTYPE PHENOTYPE CORRELATION; HEART ATRIUM SEPTUM DEFECT; HUMAN; INFANT; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MOSAICISM; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SKIN DEFECT; SKULL MALFORMATION; TEMPORAL BONE; THYMUS DISEASE;

AMINO ACID SEQUENCE; BASE SEQUENCE; BRANCHIO-OTO-RENAL SYNDROME; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; GENOTYPE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTOR AP-2;

EID: 78650673639     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33783     Document Type: Article

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