Genetic anomalies in congenital cataract
نویسندگان
چکیده
منابع مشابه
Genetic and flow anomalies in congenital heart disease
Congenital heart defects are the most common malformations in humans, affecting approximately 1% of newborn babies. While genetic causes of congenital heart disease have been studied, only less than 20% of human cases are clearly linked to genetic anomalies. The cause for the majority of the cases remains unknown. Heart formation is a finely orchestrated developmental process and slight disrupt...
متن کاملMolecular and structural analysis of genetic variations in congenital cataract
OBJECTIVE To determine the relative contributions of mutations in congenital cataract cases in an Indian population by systematic screening of genes associated with cataract. METHODS We enrolled 100 congenital cataract cases presenting at the Dr. R. P. Centre for Ophthalmic Sciences, a tertiary research and referral hospital (AIIMS, New Delhi, India). Crystallin, alpha A (CRYAA), CRYAB, CRYGs...
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Cervical abnormalities may be congenital or acquired. Congenital anomalies of the cervix are rarely isolated, and more commonly accompany other uterine anomalies. Various imaging tools have been used in the assessment of Mullerian duct anomalies (MDAs). Currently, magnetic resonance imaging (MRI) is the modality of choice for definitive diagnosis and classification of the MDAs. Hysterosalpingog...
متن کامل[Congenital anomalies].
85 Epigenetic abnormality of SRY gene in the adult XY female with pericentric inversion of the Y chromosome Tomoko Mitsuhashi, Katsuhiko Warita, Teruo Sugawara, Yoshiaki Tabuchi, Ichiro Takasaki, Takashi Kondo, Fumio Hayashi, Zhi-Yu Wang, Yoshiki Matsumoto, Takanori Miki, Yoshiki Takeuchi, Yasuhiko Ebina, Hideto Yamada, Noriaki Sakuragi, Toshifumi Yokoyama, Takashi Nanmori, Hiroshi Kitagawa, Je...
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ژورنال
عنوان ژورنال: Acta Ophthalmologica
سال: 2017
ISSN: 1755-375X
DOI: 10.1111/j.1755-3768.2017.03163