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branchio-oculo-facial syndrome (35) 35
humans (28) 28
male (21) 21
female (18) 18
branchio-oto-renal syndrome - diagnosis (13) 13
branchio-oto-renal syndrome - genetics (13) 13
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index medicus (11) 11
phenotype (10) 10
child (9) 9
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transcription factor ap-2 - genetics (9) 9
branchio-oto-renal syndrome - pathology (8) 8
branchio‐oculo‐facial syndrome (8) 8
infant (8) 8
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tfap2a (8) 8
tfap2a gene (7) 7
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branchiooculofacial syndrome (6) 6
branchio-oto-renal syndrome (5) 5
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abnormalities, multiple - genetics (4) 4
ap-2 (4) 4
branchio-oculo-facial (4) 4
branchio-oto-renal syndrome - complications (4) 4
cleft lip (4) 4
microphthalmos - genetics (4) 4
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abnormalities, multiple - pathology (2) 2
amino acid sequence (2) 2
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ap-2 protein (2) 2
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aplasia cutis congenita (2) 2
branchial arch (2) 2
branchial cleft (2) 2
branchial region - abnormalities (2) 2
branchio-oto-renal syndrome - physiopathology (2) 2
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branchio‐oto‐renal syndrome (2) 2
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American Journal of Medical Genetics Part A, ISSN 1552-4825, 2011, Volume 155, Issue 1, pp. 22 - 32
Journal Article
Journal of Craniofacial Surgery, ISSN 1049-2275, 10/2016, Volume 27, Issue 6, pp. 1412 - 1414
Branchio-oculo-facial syndrome (BOFS) is a rare disorder characterized by branchial or pharyngeal arch malformations, ocular findings, and craniofacial... 
TFAP2A | BOFS | Branchio-oculo-facial syndrome | SURGERY | MUTATION | PHENOTYPE | NECK | branchio-oculo-facial syndrome | Branchio-Oto-Renal Syndrome | Cleft Lip - pathology | Neck - surgery | Humans | Neck - pathology | Child, Preschool | Female | Cleft Lip - surgery | Infant, Newborn
Journal Article
Developmental Dynamics, ISSN 1058-8388, 03/2016, Volume 245, Issue 3, pp. 220 - 232
Journal Article
Annales de Dermatologie et de Venereologie, ISSN 0151-9638, 08/2012, Volume 139, Issue 8-9, pp. 550 - 554
Background: Branchio-Oculo-Facial Syndrome (BOFS, MIM#113620) is a rare, polymalformational disorder with cutaneous and ocular abnormalities and characteristic... 
Genetic disorder | Branchio-oculo-facial | TFAP2A gene | Genotype-phenotype correlation | Thymus
Journal Article
ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE, ISSN 0151-9638, 08/2012, Volume 139, Issue 8-9, pp. 550 - 554
Background. - Branchio-Oculo-Facial Syndrome (BOFS, MIM#113620) is a rare, polymalformational disorder with cutaneous and ocular abnormalities and... 
Genetic disorder | Genotype-phenotype correlation | Branchio-oculo-facial | TFAP2A gene | Thymus | DERMATOLOGY | Child, Preschool | Female | Phenotype | Branchio-Oto-Renal Syndrome - diagnosis | Humans
Journal Article
Journal of Mazandaran University of Medical Sciences, ISSN 1735-9279, 06/2016, Volume 26, Issue 137, pp. 217 - 223
Journal Article
Clinical Dysmorphology, ISSN 0962-8827, 01/2015, Volume 24, Issue 1, pp. 13 - 16
Branchio-oculo-facial syndrome (BOFS) is a rare autosomal dominant condition with variable expressivity, caused by mutations in the TFAP2A gene. We report a... 
TFAP2A | Lethality | Branchio-oculo-facial syndrome | Preaxial polydactyly | GENETICS & HEREDITY | preaxial polydactyly | MUTATIONS | OF-THE-LITERATURE | branchio-oculo-facial syndrome | lethality | Humans | Child, Preschool | Branchio-Oto-Renal Syndrome - pathology | Male | Perinatal Death | Young Adult | Phenotype | Pedigree | Adolescent | Fatal Outcome | Family | Female | Child | Infant, Newborn
Journal Article
ARCHIVOS ARGENTINOS DE PEDIATRIA, ISSN 0325-0075, 02/2015, Volume 113, Issue 1, pp. E14 - E16
The branchio-oculo-facial syndrome is a dominant autosomic condition with variable expressivity that affects particularly the facial and neck structures by an... 
tongue anomalies | TFAP2A | Branchio-oculo-facial | branchial arch | PHENOTYPE | PEDIATRICS | bifid uvula | Phenotype | Branchio-Oto-Renal Syndrome - diagnosis | Mouth Abnormalities - diagnosis | Abnormalities, Multiple - diagnosis | Humans | Female | Child
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2013, Volume 161, Issue 2, pp. 371 - 376
Journal Article
Advanced biomedical research, ISSN 2277-9175, 2018, Volume 7, Issue 1, pp. 145 - 145
Branchio-oculo-facial syndrome (BOFS), a rare, multiple-malformation congenital disorder, is characterized by facial anomalies, including associated cutaneous... 
Medicine, Experimental | Medical research | Branchio-Oto-Renal syndrome | Research | Craniofacial abnormalities | Genetic variation | Hair | Cataracts | Congenital diseases | Physicians | Abnormalities | Teeth | Hearing impairment | Patients | Defects | Genetic counseling | Consent | Ears & hearing | Neck | Branchio-oto-renal syndrome | Erosion | Anomalies | renal | branchio-oculo-facial | Branchial arch | ocular
Journal Article
The Cleft Palate-Craniofacial Journal, ISSN 1055-6656, 5/2012, Volume 49, Issue 3, pp. 357 - 364
Journal Article
Journal Article