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MICROPHTHALMIA, ISOLATED 4; MCOP4

MICROPHTHALMIA, ISOLATED 4; MCOP4

Asai-Coakwell et al. (2009) screened DNA samples from 489 patients with ocular anomalies (microphthalmia, clinical anophthalmia, and coloboma) and 81 patients wi...

Asai-Coakwell et al. (2009) screened DNA samples from 489 patients with ocular anomalies (microphthalmia, clinical anophthalmia, and coloboma) and 81 patients with vertebral segmentation anomalies for mutations in the GDF6 gene (601147). They identified heterozygosity for 5 different missense mutations in 5 patients with isolated microphthalmia, respectively (see, e.g., 601147.0001 and 601147.0005-601147.0006); heterozygous mutations were also found in 3 patients with skeletal anomalies and in 1 patient with coloboma and preaxial polydactyly. Incomplete penetrance was demonstrated in the 2 microphthalmia cases in which parental DNA was available, with presence of the mutation in an unaffected father and an unaffected mother, respectively. None of the mutations were found in 366 controls.

Tags: 8q22.1