Akro-reno-okuläres Syndrom

Okihiro MM et al. (1977) Duane syndrome and congenital upper-limb anomalies. A familial occurrence.

Aalfs CM et al. (1996) Further delineation of the acro-renal-ocular syndrome.

Halal F et al. (1984) Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect.

Ferrell RL et al. (1966) Simultaneous occurrence of the Holt-Oram and the Duane syndromes.

Hayes A et al. (1985) The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness.

None (1986) The DR syndrome or the Okihiro syndrome?

Pierquin G et al. (1991) A new case of acro-renal-ocular (radio-renal-ocular) syndrome with cleft palate and costo-vertebral defects? A brief clinical report.

Miertus J et al. (2006) A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.

Borozdin W et al. (2004) SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.

Parentin F et al. (2003) Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report.

Kohlhase J et al. (2003) Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.

Brassington AM et al. (2003) Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.

Al-Baradie R et al. (2002) Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.

Kohlhase J et al. (2002) Okihiro syndrome is caused by SALL4 mutations.

Becker K et al. (2002) Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families.

MacDermot KD et al. (1987) Radial ray defect and Duane anomaly: report of a family with autosomal dominant transmission.

Naito T et al. (1989) Nature of renal involvement in the acro-renal-ocular syndrome.

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