anophthalmia वाक्य
उदाहरण वाक्य
मोबाइल
- In the medical books, it is called Lenz Anophthalmia Syndrome.
- Mutations in OTX2 can cause eye disorders including anophthalmia and microphthalmia.
- Anophthalmia is an extremely rare disease and is mostly rooted in genetic abnormalities.
- Mutations in this gene have been linked with bilateral anophthalmia, a severe structural eye deformity.
- Mutations to the Rax gene cause malformation of the retinal field, including anophthalmia and micropthalmai.
- Individuals who have a mutation in the RAX gene fail to develop ocular structures, referred to as anophthalmia.
- Aside from these associative conditions, anophthalmia in only one eye tends to be associated with complications in the other eye.
- Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.
- In October 2008, DuPont paid confidential settlements to two New Zealand families whose children were born with either anophthalmia or other birth defects.
- These Fat1 knockout mice also showed partially penetrant but often severe midline defects including holoprosencephaly, microphthalmia-anophthalmia and in rare cases cyclopia.
- Mutations in the RBP4 gene have recently been linked to a form of autosomal dominant microphthalmia, anophthalmia, and coloboma ( MAC ) disease.
- Medical tests performed in the days after Alexander's birth on Monday have revealed a little more about his condition, known in the medical books as lenz anophthalmia syndrome.
- "' Anophthalmia "', ( Greek : ??????????, " without eye " ), is the medical term for the absence of one or both prenatal environment can all cause anophthalmia.
- "' Anophthalmia "', ( Greek : ??????????, " without eye " ), is the medical term for the absence of one or both prenatal environment can all cause anophthalmia.
- How these genes result in the eye disorder is unknown but it has been postulated that interference with the process of eye growth after birth may be involved in contrast to anophthalmia ( absence of eyeball ) which originates much earlier during foetal development.
- A mutated AP2-gamma gene is known to cause branchiooculofacial syndrome ( BOFS ), which is a disease characterized by face and neck abnormalities, such as cleft lip or anophthalmia lack of eyeballs, that have developed prior to birth.
- Additionally, a splice mutation in the intron 7 splice donor site ( c . 471 + 2T?! A ) of " NAA10 " was reported in a single family with Lenz microphthalmia syndrome ( LMS ), a very rare, genetically heterogeneous X-linked recessive disorder characterized by microphthalmia or anophthalmia, developmental delay, intellectual disability, skeletal abnormalities and malformations of teeth, fingers and toes.
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