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Goztepe Tip Dergisi, ISSN 1300-526X, 2014, Volume 29, Issue 1, pp. 60 - 61
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 07/2018, Volume 27, Issue 13, pp. 2357 - 2366
Abstract Cryptophthalmos (CO, MIM: 123570) is rare congenital anomalies of eyelid formation, which can occur alone or in combination with multiple congenital... 
FRASER-SYNDROME | GENETIC-VARIATION | GRIP1 | COMPLEX | PROTEIN | MOTA SYNDROME | FAMILIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | PHENOTYPE | MOUSE MYELENCEPHALIC BLEBS
Journal Article
Journal of Mazandaran University of Medical Sciences, ISSN 1735-9279, 2014, Volume 24, Issue 1, pp. 278 - 283
Journal Article
Experimental Eye Research, ISSN 0014-4835, 04/2019, Volume 181, pp. 302 - 312
Cryptophthalmos is a rare congenital disorder characterized by ocular dysplasia with eyelid malformation. Complete cryptophthalmos is characterized by the... 
Ocular abnormalities | Genotype–phenotype correlation | FREM2 mutation | Development of eyelids | Isolated cryptophthalmos | ANOPHTHALMIA | MOUSE | Genotype-phenotype correlation | PAX6 | FRASER-SYNDROME | GENETICS | OPHTHALMOLOGY | MICROPHTHALMIA | GENERATION | EXPRESSION | PRENATAL-DIAGNOSIS | Eye diseases | Mice | Genetic aspects | Analysis
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 01/2018, Volume 29, Issue 1, pp. 36 - 50
Journal Article
Journal of the American Society of Nephrology : JASN, ISSN 1046-6673, 09/2014, Volume 25, Issue 9, pp. 1917 - 1922
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2014, Volume 94, Issue 2, pp. 288 - 294
Journal Article
BMC PEDIATRICS, ISSN 1471-2431, 08/2019, Volume 19, Issue 1, pp. 292 - 5
Background Fraser syndrome is a rare genetic disorder that often presents with ocular, renal, genital and limb's congenital anomalies. The prognosis of this... 
Fraser syndrome | Cameroon | Cryptophthalmos | Anal imperforation | MUTATION | Syndactyly | PEDIATRICS | Case studies | Care and treatment | Analysis | Outcome and process assessment (Health Care) | Infants | Diagnosis | Health aspects | Medicine | Pregnancy | Postpartum period | Pneumonia | Congenital diseases | Hospitals | Surgery | Hemoglobin | Hospitalization | Fever | Blood
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 12/2013, Volume 24, Issue 1, pp. 19 - 25
Journal Article