Syndromic microphthalmia 6

Bakrania P et al. (2008) Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.

Reis LM et al. (2011) BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.

Gallardo ME et al. (1999) Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.

Bennett CP et al. (1991) Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities.

Elliott J et al. (1993) A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities.

Phadke SR et al. (1994) Anophthalmia with cleft palate and micrognathia: a new syndrome?

Lemyre E et al. (1998) Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia.

Reddy MA et al. (2003) A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.

Ahmad ME et al. (2003) 14q(22) deletion in a familial case of anophthalmia with polydactyly.

Morini F et al. (2005) Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature.

Aijaz S et al. (2004) Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.

Smartt JM et al. (2005) Microphthalmia and synostotic frontal plagiocephaly: a rare clinical entity with implications for craniofacial reconstruction.

Nolen LD et al. (2006) Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.

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