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Results 1 - 10 of 12 for Microphthalmia
  1. MITF gene 
    ... More About This Health Condition homolog of mouse microphthalmia melanogenesis associated transcription factor microphthalmia-associated transcription factor ...
    https://medlineplus.gov/genetics/gene/mitf - Genetics
  2. HCCS gene 
    ... gene mutations have been identified in individuals with microphthalmia with linear skin defects syndrome. Deletions of genetic ... to the eye and skin abnormalities characteristic of microphthalmia with linear skin defects syndrome. More About This ...
    https://medlineplus.gov/genetics/gene/hccs - Genetics
  3. SMCHD1 gene 
    ... mutations have been found to cause Bosma arhinia microphthalmia syndrome (BAMS). Individuals with this rare condition have ... small or absent nose (arhinia), unusually small eyes (microphthalmia), and a shortage of certain hormones that direct ...
    https://medlineplus.gov/genetics/gene/smchd1 - Genetics
  4. BCOR gene 
    ... This Health Condition MedlinePlus Genetics provides information about Microphthalmia More About This Health Condition BCL-6 interacting ... facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. Eur J Hum Genet. 2005 May;13( ...
    https://medlineplus.gov/genetics/gene/bcor - Genetics
  5. PAX6 gene 
    ... one copy of the PAX6 gene can cause microphthalmia, which describes eyes that are smaller than usual. ... role as a transcription factor.In addition to microphthalmia or coloboma (described above), individuals with these relatively ...
    https://medlineplus.gov/genetics/gene/pax6 - Genetics
  6. SOX2 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Microphthalmia More About This Health Condition ANOP3 MCOPS3 MGC2413 ... SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. Mol Vis. 2008 Mar 24;14:583-92. ...
    https://medlineplus.gov/genetics/gene/sox2 - Genetics
  7. OTX2 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Microphthalmia More About This Health Condition homeobox protein OTX2 ... OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. Hum Mutat. 2008 Nov;29(11): ...
    https://medlineplus.gov/genetics/gene/otx2 - Genetics
  8. ALX1 gene 
    ... B, Akarsu NA. Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of ...
    https://medlineplus.gov/genetics/gene/alx1 - Genetics
  9. SHH gene 
    ... This Health Condition MedlinePlus Genetics provides information about Microphthalmia More About This Health Condition HPE3 SHH_HUMAN ...
    https://medlineplus.gov/genetics/gene/shh - Genetics
  10. GDF6 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Microphthalmia More About This Health Condition BMP13 CDMP2 GDF- ...
    https://medlineplus.gov/genetics/gene/gdf6 - Genetics
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