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Journal Article
Journal Article
Balkan Journal of Medical Genetics, ISSN 1311-0160, 06/2016, Volume 19, Issue 1, pp. 77 - 84
Clinical anophthalmia is a rare inherited disease of the eye and phenotype refers to the absence of ocular tissue in the orbit of eye. Patients may have... 
Isolated clinical anophthalmia | Khyber Pukhtunkwa | Pashtoon ethnic family | Mutation screening | gene | Linkage analysis | SOX2 gene | COLOBOMA MAC | ANOMALIES | EMBRYONIC STEM-CELLS | GENETICS & HEREDITY | MICROPHTHALMIA | RECURRENCE | PHENOTYPICALLY NORMAL MOTHER | SOX2 MUTATION | BRAIN | EPIDEMIOLOGY | MOSAICISM
Journal Article
Birth Defects Research Part A - Clinical and Molecular Teratology, ISSN 1542-0752, 03/2012, Volume 94, Issue 3, pp. 147 - 152
BACKGROUND Infants with anophthalmia and microphthalmia frequently have other associated congenital anomalies. The reported frequency and types of associated... 
An/microphthalmia | Birth defects | Anophthalmia | Eye malformations | Congenital anomalies | Microphthalmia | eye malformations | COLOBOMA MAC | SYSTEM | DEFECTS | microphthalmia | ANOMALIES | anophthalmia | SOX2 CAUSE ANOPHTHALMIA | DESCRIPTIVE EPIDEMIOLOGY | DEVELOPMENTAL BIOLOGY | congenital anomalies | birth defects | CONGENITAL EYE MALFORMATIONS | CONSECUTIVE BIRTHS | TOXICOLOGY | MUTATIONS | HOMEOBOX GENE | Chromosome Disorders - epidemiology | Congenital Abnormalities - epidemiology | Polycystic Kidney Diseases - diagnosis | Trisomy | Prevalence | Encephalocele - epidemiology | Humans | Infant | Microphthalmos - epidemiology | CHARGE Syndrome - epidemiology | Congenital Abnormalities - diagnosis | Spine - abnormalities | Abnormalities, Multiple - epidemiology | Amniotic Band Syndrome - epidemiology | Chromosome Disorders - diagnosis | Amniotic Band Syndrome - diagnosis | Trachea - abnormalities | Ciliary Motility Disorders - epidemiology | Encephalocele - diagnosis | France - epidemiology | CHARGE Syndrome - diagnosis | Esophagus - abnormalities | Anal Canal - abnormalities | Limb Deformities, Congenital - diagnosis | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Abnormalities, Multiple - diagnosis | Chromosomes, Human, Pair 13 | Heart Defects, Congenital - epidemiology | Ciliary Motility Disorders - diagnosis | Heart Defects, Congenital - diagnosis | Trisomy 13 Syndrome | Polycystic Kidney Diseases - epidemiology | Anophthalmos - epidemiology | Index Medicus
Journal Article
Revista Brasileira de Oftalmologia, ISSN 0034-7280, 2013, Volume 72, Issue 5, pp. 341 - 343
Kabuki syndrome is a rare congenital anomaly, characterized by five fundamental features, the "Pentad of Niikawa": dysmorphic facies, skeletal anomalies,... 
Glaucoma | Case reports | Coloboma | Strabismus | Congenital disorders | OPHTHALMOLOGY | Doenças congênitas | Relato de casos | Estrabismo
Journal Article
Journal of AAPOS, ISSN 1091-8531, 08/2018, Volume 22, Issue 4, pp. 281 - 285.e1
To determine the child's and parental perception of functional visual ability (FVA), vision-related and health-related quality of life (VR-QoL, HR-QoL) in... 
IMPACT | COLOBOMA | GENERIC CORE SCALES | ANOPHTHALMIA | OPHTHALMOLOGY | MICROPHTHALMIA | PEDIATRICS | HEALTHY | CATARACT | Parenting | Children | Index Medicus
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 12/2011, Volume 32, Issue 12, pp. 1417 - 1426
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 2014, Volume 10, Issue 7, pp. e1004491 - e1004491
Journal Article